dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs767548244
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr22:26464314 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- G>A / G>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.000004 (1/264690, TOPMED)A=0.000004 (1/251078, GnomAD_exome)C=0.000007 (1/140252, GnomAD) (+ 3 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- HPS4 : Missense Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 14050 | G=1.00000 | A=0.00000, C=0.00000 |
| European | Sub | 9690 | G=1.0000 | A=0.0000, C=0.0000 |
| African | Sub | 2898 | G=1.0000 | A=0.0000, C=0.0000 |
| African Others | Sub | 114 | G=1.000 | A=0.000, C=0.000 |
| African American | Sub | 2784 | G=1.0000 | A=0.0000, C=0.0000 |
| Asian | Sub | 112 | G=1.000 | A=0.000, C=0.000 |
| East Asian | Sub | 86 | G=1.00 | A=0.00, C=0.00 |
| Other Asian | Sub | 26 | G=1.00 | A=0.00, C=0.00 |
| Latin American 1 | Sub | 146 | G=1.000 | A=0.000, C=0.000 |
| Latin American 2 | Sub | 610 | G=1.000 | A=0.000, C=0.000 |
| South Asian | Sub | 98 | G=1.00 | A=0.00, C=0.00 |
| Other | Sub | 496 | G=1.000 | A=0.000, C=0.000 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | G=0.999996 | A=0.000004 |
| gnomAD - Exomes | Global | Study-wide | 251078 | G=0.999996 | A=0.000004 |
| gnomAD - Exomes | European | Sub | 135042 | G=0.999993 | A=0.000007 |
| gnomAD - Exomes | Asian | Sub | 49008 | G=1.00000 | A=0.00000 |
| gnomAD - Exomes | American | Sub | 34582 | G=1.00000 | A=0.00000 |
| gnomAD - Exomes | African | Sub | 16252 | G=1.00000 | A=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10062 | G=1.00000 | A=0.00000 |
| gnomAD - Exomes | Other | Sub | 6132 | G=1.0000 | A=0.0000 |
| gnomAD - Genomes | Global | Study-wide | 140252 | G=0.999993 | C=0.000007 |
| gnomAD - Genomes | European | Sub | 75946 | G=1.00000 | C=0.00000 |
| gnomAD - Genomes | African | Sub | 42042 | G=1.00000 | C=0.00000 |
| gnomAD - Genomes | American | Sub | 13658 | G=0.99993 | C=0.00007 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | G=1.0000 | C=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3132 | G=1.0000 | C=0.0000 |
| gnomAD - Genomes | Other | Sub | 2150 | G=1.0000 | C=0.0000 |
| ExAC | Global | Study-wide | 121348 | G=0.999992 | A=0.000008 |
| ExAC | Europe | Sub | 73314 | G=0.99999 | A=0.00001 |
| ExAC | Asian | Sub | 25160 | G=1.00000 | A=0.00000 |
| ExAC | American | Sub | 11576 | G=1.00000 | A=0.00000 |
| ExAC | African | Sub | 10392 | G=1.00000 | A=0.00000 |
| ExAC | Other | Sub | 906 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | Total | Global | 14050 | G=1.00000 | A=0.00000, C=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | G=1.0000 | A=0.0000, C=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | G=1.0000 | A=0.0000, C=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | G=1.000 | A=0.000, C=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | G=1.000 | A=0.000, C=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | G=1.000 | A=0.000, C=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | G=1.000 | A=0.000, C=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | G=1.00 | A=0.00, C=0.00 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 22 | NC_000022.11:g.26464314G>A |
| GRCh38.p14 chr 22 | NC_000022.11:g.26464314G>C |
| GRCh37.p13 chr 22 | NC_000022.10:g.26860280G>A |
| GRCh37.p13 chr 22 | NC_000022.10:g.26860280G>C |
| HPS4 RefSeqGene (LRG_590) | NG_009763.2:g.24550C>T |
| HPS4 RefSeqGene (LRG_590) | NG_009763.2:g.24550C>G |
Gene: HPS4, HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| HPS4 transcript variant 2 | NM_152841.2:c.1301C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform b | NP_690054.1:p.Ala434Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant 2 | NM_152841.2:c.1301C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform b | NP_690054.1:p.Ala434Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant 3 | NM_001349896.1:c.1316C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform a | NP_001336825.1:p.Ala439Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant 3 | NM_001349896.1:c.1316C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform a | NP_001336825.1:p.Ala439Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant 10 | NM_001349902.1:c.1316C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform d | NP_001336831.1:p.Ala439Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant 10 | NM_001349902.1:c.1316C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform d | NP_001336831.1:p.Ala439Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant 9 | NM_001349901.1:c.1370C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform c | NP_001336830.1:p.Ala457Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant 9 | NM_001349901.1:c.1370C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform c | NP_001336830.1:p.Ala457Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant 13 | NM_001349905.1:c.1316C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform e | NP_001336834.1:p.Ala439Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant 13 | NM_001349905.1:c.1316C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform e | NP_001336834.1:p.Ala439Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant 4 | NM_001349898.2:c.1316C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform a | NP_001336827.1:p.Ala439Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant 4 | NM_001349898.2:c.1316C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform a | NP_001336827.1:p.Ala439Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant 8 | NM_001349900.2:c.1370C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform c | NP_001336829.1:p.Ala457Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant 8 | NM_001349900.2:c.1370C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform c | NP_001336829.1:p.Ala457Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant 11 | NM_001349903.2:c.1316C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform d | NP_001336832.1:p.Ala439Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant 11 | NM_001349903.2:c.1316C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform d | NP_001336832.1:p.Ala439Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant 12 | NM_001349904.2:c.1316C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform e | NP_001336833.1:p.Ala439Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant 12 | NM_001349904.2:c.1316C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform e | NP_001336833.1:p.Ala439Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant 7 | NM_001349899.2:c.1316C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform a | NP_001336828.1:p.Ala439Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant 7 | NM_001349899.2:c.1316C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform a | NP_001336828.1:p.Ala439Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant 1 | NM_022081.6:c.1316C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform a | NP_071364.4:p.Ala439Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant 1 | NM_022081.6:c.1316C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform a | NP_071364.4:p.Ala439Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant 5 | NR_073135.1:n.2002C>T | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant 5 | NR_073135.1:n.2002C>G | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant 17 | NR_146314.1:n.2069C>T | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant 17 | NR_146314.1:n.2069C>G | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant 15 | NR_146312.1:n.1918C>T | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant 15 | NR_146312.1:n.1918C>G | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant 6 | NR_073136.2:n.1571C>T | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant 6 | NR_073136.2:n.1571C>G | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant 16 | NR_146313.2:n.1858C>T | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant 16 | NR_146313.2:n.1858C>G | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant 14 | NR_146311.2:n.2013C>T | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant 14 | NR_146311.2:n.2013C>G | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant 18 | NR_146315.2:n.1929C>T | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant 18 | NR_146315.2:n.1929C>G | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant 19 | NR_146316.2:n.1904C>T | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant 19 | NR_146316.2:n.1904C>G | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant X1 | XM_011530486.3:c.1448C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X1 | XP_011528788.1:p.Ala483Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X1 | XM_011530486.3:c.1448C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X1 | XP_011528788.1:p.Ala483Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X2 | XM_011530490.4:c.1394C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X2 | XP_011528792.1:p.Ala465Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X2 | XM_011530490.4:c.1394C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X2 | XP_011528792.1:p.Ala465Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X3 | XM_047441561.1:c.1370C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X3 | XP_047297517.1:p.Ala457Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X3 | XM_047441561.1:c.1370C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X3 | XP_047297517.1:p.Ala457Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X4 | XM_047441562.1:c.1370C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X3 | XP_047297518.1:p.Ala457Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X4 | XM_047441562.1:c.1370C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X3 | XP_047297518.1:p.Ala457Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X5 | XM_047441563.1:c.1370C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X3 | XP_047297519.1:p.Ala457Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X5 | XM_047441563.1:c.1370C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X3 | XP_047297519.1:p.Ala457Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X9 | XM_047441564.1:c.1316C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X4 | XP_047297520.1:p.Ala439Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X9 | XM_047441564.1:c.1316C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X4 | XP_047297520.1:p.Ala439Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X12 | XM_047441565.1:c.1370C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X5 | XP_047297521.1:p.Ala457Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X12 | XM_047441565.1:c.1370C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X5 | XP_047297521.1:p.Ala457Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X13 | XM_047441566.1:c.1370C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X5 | XP_047297522.1:p.Ala457Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X13 | XM_047441566.1:c.1370C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X5 | XP_047297522.1:p.Ala457Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X14 | XM_047441567.1:c.1370C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X5 | XP_047297523.1:p.Ala457Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X14 | XM_047441567.1:c.1370C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X5 | XP_047297523.1:p.Ala457Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X15 | XM_017029046.3:c.1316C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X6 | XP_016884535.1:p.Ala439Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X15 | XM_017029046.3:c.1316C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X6 | XP_016884535.1:p.Ala439Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X16 | XM_047441568.1:c.1316C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X6 | XP_047297524.1:p.Ala439Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X16 | XM_047441568.1:c.1316C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X6 | XP_047297524.1:p.Ala439Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X17 | XM_047441569.1:c.1316C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X6 | XP_047297525.1:p.Ala439Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X17 | XM_047441569.1:c.1316C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X6 | XP_047297525.1:p.Ala439Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X18 | XM_047441570.1:c.1316C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| Hermansky-Pudlak syndrome 4 protein isoform X6 | XP_047297526.1:p.Ala439Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X18 | XM_047441570.1:c.1316C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| Hermansky-Pudlak syndrome 4 protein isoform X6 | XP_047297526.1:p.Ala439Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X19 | XM_047441571.1:c.1370C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X7 | XP_047297527.1:p.Ala457Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X19 | XM_047441571.1:c.1370C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X7 | XP_047297527.1:p.Ala457Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X20 | XM_047441572.1:c.1370C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X7 | XP_047297528.1:p.Ala457Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X20 | XM_047441572.1:c.1370C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X7 | XP_047297528.1:p.Ala457Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X21 | XM_047441573.1:c.1370C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X7 | XP_047297529.1:p.Ala457Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X21 | XM_047441573.1:c.1370C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X7 | XP_047297529.1:p.Ala457Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X22 | XM_047441574.1:c.1370C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X7 | XP_047297530.1:p.Ala457Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X22 | XM_047441574.1:c.1370C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X7 | XP_047297530.1:p.Ala457Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X23 | XM_047441575.1:c.1370C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X8 | XP_047297531.1:p.Ala457Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X23 | XM_047441575.1:c.1370C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X8 | XP_047297531.1:p.Ala457Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X24 | XM_047441576.1:c.1370C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X8 | XP_047297532.1:p.Ala457Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X24 | XM_047441576.1:c.1370C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X8 | XP_047297532.1:p.Ala457Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X25 | XM_047441577.1:c.1370C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X8 | XP_047297533.1:p.Ala457Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X25 | XM_047441577.1:c.1370C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X8 | XP_047297533.1:p.Ala457Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X27 | XM_047441578.1:c.1316C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X9 | XP_047297534.1:p.Ala439Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X27 | XM_047441578.1:c.1316C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X9 | XP_047297534.1:p.Ala439Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X28 | XM_047441579.1:c.1316C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X9 | XP_047297535.1:p.Ala439Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X28 | XM_047441579.1:c.1316C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X9 | XP_047297535.1:p.Ala439Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X29 | XM_047441580.1:c.1316C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X9 | XP_047297536.1:p.Ala439Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X29 | XM_047441580.1:c.1316C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X9 | XP_047297536.1:p.Ala439Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X30 | XM_047441581.1:c.1316C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X10 | XP_047297537.1:p.Ala439Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X30 | XM_047441581.1:c.1316C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X10 | XP_047297537.1:p.Ala439Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X31 | XM_047441582.1:c.1316C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X10 | XP_047297538.1:p.Ala439Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X31 | XM_047441582.1:c.1316C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X10 | XP_047297538.1:p.Ala439Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X33 | XM_047441583.1:c.1316C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X10 | XP_047297539.1:p.Ala439Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X33 | XM_047441583.1:c.1316C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X10 | XP_047297539.1:p.Ala439Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X35 | XM_017029053.2:c.893C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X11 | XP_016884542.1:p.Ala298Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X35 | XM_017029053.2:c.893C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X11 | XP_016884542.1:p.Ala298Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X36 | XM_011530495.3:c.803C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X12 | XP_011528797.1:p.Ala268Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X36 | XM_011530495.3:c.803C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X12 | XP_011528797.1:p.Ala268Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X37 | XM_011530496.3:c.656C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X13 | XP_011528798.1:p.Ala219Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X37 | XM_011530496.3:c.656C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X13 | XP_011528798.1:p.Ala219Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X38 | XM_047441584.1:c.521C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X14 | XP_047297540.1:p.Ala174Val | A (Ala) > V (Val) | Missense Variant |
| HPS4 transcript variant X38 | XM_047441584.1:c.521C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| BLOC-3 complex member HPS4 isoform X14 | XP_047297540.1:p.Ala174Gly | A (Ala) > G (Gly) | Missense Variant |
| HPS4 transcript variant X6 | XR_001755361.3:n.1958C>T | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant X6 | XR_001755361.3:n.1958C>G | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant X7 | XR_007067983.1:n.1947C>T | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant X7 | XR_007067983.1:n.1947C>G | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant X8 | XR_007067984.1:n.1887C>T | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant X8 | XR_007067984.1:n.1887C>G | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant X10 | XR_007067985.1:n.1893C>T | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant X10 | XR_007067985.1:n.1893C>G | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant X11 | XR_007067986.1:n.1833C>T | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant X11 | XR_007067986.1:n.1833C>G | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant X18 | XR_007067987.1:n.1833C>T | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant X18 | XR_007067987.1:n.1833C>G | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant X26 | XR_007067988.1:n.1958C>T | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant X26 | XR_007067988.1:n.1958C>G | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant X32 | XR_007067989.1:n.1904C>T | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant X32 | XR_007067989.1:n.1904C>G | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant X34 | XR_001755364.2:n.1893C>T | N/A | Non Coding Transcript Variant |
| HPS4 transcript variant X34 | XR_001755364.2:n.1893C>G | N/A | Non Coding Transcript Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Not Reported in ClinVar
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | G= | A | C |
|---|---|---|---|
| GRCh38.p14 chr 22 | NC_000022.11:g.26464314= | NC_000022.11:g.26464314G>A | NC_000022.11:g.26464314G>C |
| GRCh37.p13 chr 22 | NC_000022.10:g.26860280= | NC_000022.10:g.26860280G>A | NC_000022.10:g.26860280G>C |
| HPS4 RefSeqGene (LRG_590) | NG_009763.2:g.24550= | NG_009763.2:g.24550C>T | NG_009763.2:g.24550C>G |
| HPS4 transcript variant 1 | NM_022081.6:c.1316= | NM_022081.6:c.1316C>T | NM_022081.6:c.1316C>G |
| HPS4 transcript variant 1 | NM_022081.5:c.1316= | NM_022081.5:c.1316C>T | NM_022081.5:c.1316C>G |
| HPS4 transcript variant 4 | NM_001349898.2:c.1316= | NM_001349898.2:c.1316C>T | NM_001349898.2:c.1316C>G |
| HPS4 transcript variant 4 | NM_001349898.1:c.1316= | NM_001349898.1:c.1316C>T | NM_001349898.1:c.1316C>G |
| HPS4 transcript variant 14 | NR_146311.2:n.2013= | NR_146311.2:n.2013C>T | NR_146311.2:n.2013C>G |
| HPS4 transcript variant 14 | NR_146311.1:n.2093= | NR_146311.1:n.2093C>T | NR_146311.1:n.2093C>G |
| HPS4 transcript variant 8 | NM_001349900.2:c.1370= | NM_001349900.2:c.1370C>T | NM_001349900.2:c.1370C>G |
| HPS4 transcript variant 8 | NM_001349900.1:c.1370= | NM_001349900.1:c.1370C>T | NM_001349900.1:c.1370C>G |
| HPS4 transcript variant 18 | NR_146315.2:n.1929= | NR_146315.2:n.1929C>T | NR_146315.2:n.1929C>G |
| HPS4 transcript variant 18 | NR_146315.1:n.2009= | NR_146315.1:n.2009C>T | NR_146315.1:n.2009C>G |
| HPS4 transcript variant 16 | NR_146313.2:n.1858= | NR_146313.2:n.1858C>T | NR_146313.2:n.1858C>G |
| HPS4 transcript variant 16 | NR_146313.1:n.1938= | NR_146313.1:n.1938C>T | NR_146313.1:n.1938C>G |
| HPS4 transcript variant 7 | NM_001349899.2:c.1316= | NM_001349899.2:c.1316C>T | NM_001349899.2:c.1316C>G |
| HPS4 transcript variant 7 | NM_001349899.1:c.1316= | NM_001349899.1:c.1316C>T | NM_001349899.1:c.1316C>G |
| HPS4 transcript variant 11 | NM_001349903.2:c.1316= | NM_001349903.2:c.1316C>T | NM_001349903.2:c.1316C>G |
| HPS4 transcript variant 11 | NM_001349903.1:c.1316= | NM_001349903.1:c.1316C>T | NM_001349903.1:c.1316C>G |
| HPS4 transcript variant 2 | NM_152841.2:c.1301= | NM_152841.2:c.1301C>T | NM_152841.2:c.1301C>G |
| HPS4 transcript variant 6 | NR_073136.2:n.1571= | NR_073136.2:n.1571C>T | NR_073136.2:n.1571C>G |
| HPS4 transcript variant 6 | NR_073136.1:n.1764= | NR_073136.1:n.1764C>T | NR_073136.1:n.1764C>G |
| HPS4 transcript variant 19 | NR_146316.2:n.1904= | NR_146316.2:n.1904C>T | NR_146316.2:n.1904C>G |
| HPS4 transcript variant 19 | NR_146316.1:n.1984= | NR_146316.1:n.1984C>T | NR_146316.1:n.1984C>G |
| HPS4 transcript variant 12 | NM_001349904.2:c.1316= | NM_001349904.2:c.1316C>T | NM_001349904.2:c.1316C>G |
| HPS4 transcript variant 12 | NM_001349904.1:c.1316= | NM_001349904.1:c.1316C>T | NM_001349904.1:c.1316C>G |
| HPS4 transcript variant 17 | NR_146314.1:n.2069= | NR_146314.1:n.2069C>T | NR_146314.1:n.2069C>G |
| HPS4 transcript variant 5 | NR_073135.1:n.2002= | NR_073135.1:n.2002C>T | NR_073135.1:n.2002C>G |
| HPS4 transcript variant 9 | NM_001349901.1:c.1370= | NM_001349901.1:c.1370C>T | NM_001349901.1:c.1370C>G |
| HPS4 transcript variant 15 | NR_146312.1:n.1918= | NR_146312.1:n.1918C>T | NR_146312.1:n.1918C>G |
| HPS4 transcript variant 3 | NM_001349896.1:c.1316= | NM_001349896.1:c.1316C>T | NM_001349896.1:c.1316C>G |
| HPS4 transcript variant 10 | NM_001349902.1:c.1316= | NM_001349902.1:c.1316C>T | NM_001349902.1:c.1316C>G |
| HPS4 transcript variant 13 | NM_001349905.1:c.1316= | NM_001349905.1:c.1316C>T | NM_001349905.1:c.1316C>G |
| HPS4 transcript variant X2 | XM_011530490.4:c.1394= | XM_011530490.4:c.1394C>T | XM_011530490.4:c.1394C>G |
| HPS4 transcript variant X7 | XM_011530490.3:c.1394= | XM_011530490.3:c.1394C>T | XM_011530490.3:c.1394C>G |
| HPS4 transcript variant X7 | XM_011530490.2:c.1394= | XM_011530490.2:c.1394C>T | XM_011530490.2:c.1394C>G |
| HPS4 transcript variant X7 | XM_011530490.1:c.1394= | XM_011530490.1:c.1394C>T | XM_011530490.1:c.1394C>G |
| HPS4 transcript variant X1 | XM_011530486.3:c.1448= | XM_011530486.3:c.1448C>T | XM_011530486.3:c.1448C>G |
| HPS4 transcript variant X2 | XM_011530486.2:c.1448= | XM_011530486.2:c.1448C>T | XM_011530486.2:c.1448C>G |
| HPS4 transcript variant X2 | XM_011530486.1:c.1448= | XM_011530486.1:c.1448C>T | XM_011530486.1:c.1448C>G |
| HPS4 transcript variant X15 | XM_017029046.3:c.1316= | XM_017029046.3:c.1316C>T | XM_017029046.3:c.1316C>G |
| HPS4 transcript variant X14 | XM_017029046.2:c.1316= | XM_017029046.2:c.1316C>T | XM_017029046.2:c.1316C>G |
| HPS4 transcript variant X19 | XM_017029046.1:c.1316= | XM_017029046.1:c.1316C>T | XM_017029046.1:c.1316C>G |
| HPS4 transcript variant X6 | XR_001755361.3:n.1958= | XR_001755361.3:n.1958C>T | XR_001755361.3:n.1958C>G |
| HPS4 transcript variant X8 | XR_001755361.2:n.2024= | XR_001755361.2:n.2024C>T | XR_001755361.2:n.2024C>G |
| HPS4 transcript variant X10 | XR_001755361.1:n.2029= | XR_001755361.1:n.2029C>T | XR_001755361.1:n.2029C>G |
| HPS4 transcript variant X36 | XM_011530495.3:c.803= | XM_011530495.3:c.803C>T | XM_011530495.3:c.803C>G |
| HPS4 transcript variant X21 | XM_011530495.2:c.803= | XM_011530495.2:c.803C>T | XM_011530495.2:c.803C>G |
| HPS4 transcript variant X15 | XM_011530495.1:c.803= | XM_011530495.1:c.803C>T | XM_011530495.1:c.803C>G |
| HPS4 transcript variant X37 | XM_011530496.3:c.656= | XM_011530496.3:c.656C>T | XM_011530496.3:c.656C>G |
| HPS4 transcript variant X23 | XM_011530496.2:c.656= | XM_011530496.2:c.656C>T | XM_011530496.2:c.656C>G |
| HPS4 transcript variant X16 | XM_011530496.1:c.656= | XM_011530496.1:c.656C>T | XM_011530496.1:c.656C>G |
| HPS4 transcript variant X35 | XM_017029053.2:c.893= | XM_017029053.2:c.893C>T | XM_017029053.2:c.893C>G |
| HPS4 transcript variant X18 | XM_017029053.1:c.893= | XM_017029053.1:c.893C>T | XM_017029053.1:c.893C>G |
| HPS4 transcript variant X34 | XR_001755364.2:n.1893= | XR_001755364.2:n.1893C>T | XR_001755364.2:n.1893C>G |
| HPS4 transcript variant X16 | XR_001755364.1:n.1880= | XR_001755364.1:n.1880C>T | XR_001755364.1:n.1880C>G |
| HPS4 transcript variant 20 | NM_001410832.1:c.1316= | NM_001410832.1:c.1316C>T | NM_001410832.1:c.1316C>G |
| HPS4 transcript variant X4 | XM_047441562.1:c.1370= | XM_047441562.1:c.1370C>T | XM_047441562.1:c.1370C>G |
| HPS4 transcript variant X5 | XM_047441563.1:c.1370= | XM_047441563.1:c.1370C>T | XM_047441563.1:c.1370C>G |
| HPS4 transcript variant X9 | XM_047441564.1:c.1316= | XM_047441564.1:c.1316C>T | XM_047441564.1:c.1316C>G |
| HPS4 transcript variant X3 | XM_047441561.1:c.1370= | XM_047441561.1:c.1370C>T | XM_047441561.1:c.1370C>G |
| HPS4 transcript variant X30 | XM_047441581.1:c.1316= | XM_047441581.1:c.1316C>T | XM_047441581.1:c.1316C>G |
| HPS4 transcript variant X33 | XM_047441583.1:c.1316= | XM_047441583.1:c.1316C>T | XM_047441583.1:c.1316C>G |
| HPS4 transcript variant X23 | XM_047441575.1:c.1370= | XM_047441575.1:c.1370C>T | XM_047441575.1:c.1370C>G |
| HPS4 transcript variant X24 | XM_047441576.1:c.1370= | XM_047441576.1:c.1370C>T | XM_047441576.1:c.1370C>G |
| HPS4 transcript variant X25 | XM_047441577.1:c.1370= | XM_047441577.1:c.1370C>T | XM_047441577.1:c.1370C>G |
| HPS4 transcript variant X31 | XM_047441582.1:c.1316= | XM_047441582.1:c.1316C>T | XM_047441582.1:c.1316C>G |
| HPS4 transcript variant X18 | XR_007067987.1:n.1833= | XR_007067987.1:n.1833C>T | XR_007067987.1:n.1833C>G |
| HPS4 transcript variant 3 | NM_152840.1:c.*834= | NM_152840.1:c.*834C>T | NM_152840.1:c.*834C>G |
| HPS4 transcript variant X17 | XM_047441569.1:c.1316= | XM_047441569.1:c.1316C>T | XM_047441569.1:c.1316C>G |
| HPS4 transcript variant 5 | NM_152842.1:c.*1276= | NM_152842.1:c.*1276C>T | NM_152842.1:c.*1276C>G |
| HPS4 transcript variant X12 | XM_047441565.1:c.1370= | XM_047441565.1:c.1370C>T | XM_047441565.1:c.1370C>G |
| HPS4 transcript variant X13 | XM_047441566.1:c.1370= | XM_047441566.1:c.1370C>T | XM_047441566.1:c.1370C>G |
| HPS4 transcript variant X16 | XM_047441568.1:c.1316= | XM_047441568.1:c.1316C>T | XM_047441568.1:c.1316C>G |
| HPS4 transcript variant X14 | XM_047441567.1:c.1370= | XM_047441567.1:c.1370C>T | XM_047441567.1:c.1370C>G |
| HPS4 transcript variant X18 | XM_047441570.1:c.1316= | XM_047441570.1:c.1316C>T | XM_047441570.1:c.1316C>G |
| HPS4 transcript variant X21 | XM_047441573.1:c.1370= | XM_047441573.1:c.1370C>T | XM_047441573.1:c.1370C>G |
| HPS4 transcript variant X27 | XM_047441578.1:c.1316= | XM_047441578.1:c.1316C>T | XM_047441578.1:c.1316C>G |
| HPS4 transcript variant X29 | XM_047441580.1:c.1316= | XM_047441580.1:c.1316C>T | XM_047441580.1:c.1316C>G |
| HPS4 transcript variant X19 | XM_047441571.1:c.1370= | XM_047441571.1:c.1370C>T | XM_047441571.1:c.1370C>G |
| HPS4 transcript variant X7 | XR_007067983.1:n.1947= | XR_007067983.1:n.1947C>T | XR_007067983.1:n.1947C>G |
| HPS4 transcript variant X20 | XM_047441572.1:c.1370= | XM_047441572.1:c.1370C>T | XM_047441572.1:c.1370C>G |
| HPS4 transcript variant X10 | XR_007067985.1:n.1893= | XR_007067985.1:n.1893C>T | XR_007067985.1:n.1893C>G |
| HPS4 transcript variant X8 | XR_007067984.1:n.1887= | XR_007067984.1:n.1887C>T | XR_007067984.1:n.1887C>G |
| HPS4 transcript variant X22 | XM_047441574.1:c.1370= | XM_047441574.1:c.1370C>T | XM_047441574.1:c.1370C>G |
| HPS4 transcript variant X11 | XR_007067986.1:n.1833= | XR_007067986.1:n.1833C>T | XR_007067986.1:n.1833C>G |
| HPS4 transcript variant X28 | XM_047441579.1:c.1316= | XM_047441579.1:c.1316C>T | XM_047441579.1:c.1316C>G |
| HPS4 transcript variant X26 | XR_007067988.1:n.1958= | XR_007067988.1:n.1958C>T | XR_007067988.1:n.1958C>G |
| HPS4 transcript variant X32 | XR_007067989.1:n.1904= | XR_007067989.1:n.1904C>T | XR_007067989.1:n.1904C>G |
| HPS4 transcript variant X38 | XM_047441584.1:c.521= | XM_047441584.1:c.521C>T | XM_047441584.1:c.521C>G |
| HPS4 transcript variant 4 | NM_152843.1:c.1370= | NM_152843.1:c.1370C>T | NM_152843.1:c.1370C>G |
| BLOC-3 complex member HPS4 isoform a | NP_071364.4:p.Ala439= | NP_071364.4:p.Ala439Val | NP_071364.4:p.Ala439Gly |
| BLOC-3 complex member HPS4 isoform a | NP_001336827.1:p.Ala439= | NP_001336827.1:p.Ala439Val | NP_001336827.1:p.Ala439Gly |
| BLOC-3 complex member HPS4 isoform c | NP_001336829.1:p.Ala457= | NP_001336829.1:p.Ala457Val | NP_001336829.1:p.Ala457Gly |
| BLOC-3 complex member HPS4 isoform a | NP_001336828.1:p.Ala439= | NP_001336828.1:p.Ala439Val | NP_001336828.1:p.Ala439Gly |
| BLOC-3 complex member HPS4 isoform d | NP_001336832.1:p.Ala439= | NP_001336832.1:p.Ala439Val | NP_001336832.1:p.Ala439Gly |
| BLOC-3 complex member HPS4 isoform b | NP_690054.1:p.Ala434= | NP_690054.1:p.Ala434Val | NP_690054.1:p.Ala434Gly |
| BLOC-3 complex member HPS4 isoform e | NP_001336833.1:p.Ala439= | NP_001336833.1:p.Ala439Val | NP_001336833.1:p.Ala439Gly |
| BLOC-3 complex member HPS4 isoform c | NP_001336830.1:p.Ala457= | NP_001336830.1:p.Ala457Val | NP_001336830.1:p.Ala457Gly |
| BLOC-3 complex member HPS4 isoform a | NP_001336825.1:p.Ala439= | NP_001336825.1:p.Ala439Val | NP_001336825.1:p.Ala439Gly |
| BLOC-3 complex member HPS4 isoform d | NP_001336831.1:p.Ala439= | NP_001336831.1:p.Ala439Val | NP_001336831.1:p.Ala439Gly |
| BLOC-3 complex member HPS4 isoform e | NP_001336834.1:p.Ala439= | NP_001336834.1:p.Ala439Val | NP_001336834.1:p.Ala439Gly |
| BLOC-3 complex member HPS4 isoform X2 | XP_011528792.1:p.Ala465= | XP_011528792.1:p.Ala465Val | XP_011528792.1:p.Ala465Gly |
| BLOC-3 complex member HPS4 isoform X1 | XP_011528788.1:p.Ala483= | XP_011528788.1:p.Ala483Val | XP_011528788.1:p.Ala483Gly |
| BLOC-3 complex member HPS4 isoform X6 | XP_016884535.1:p.Ala439= | XP_016884535.1:p.Ala439Val | XP_016884535.1:p.Ala439Gly |
| BLOC-3 complex member HPS4 isoform X12 | XP_011528797.1:p.Ala268= | XP_011528797.1:p.Ala268Val | XP_011528797.1:p.Ala268Gly |
| BLOC-3 complex member HPS4 isoform X13 | XP_011528798.1:p.Ala219= | XP_011528798.1:p.Ala219Val | XP_011528798.1:p.Ala219Gly |
| BLOC-3 complex member HPS4 isoform X11 | XP_016884542.1:p.Ala298= | XP_016884542.1:p.Ala298Val | XP_016884542.1:p.Ala298Gly |
| BLOC-3 complex member HPS4 isoform X3 | XP_047297518.1:p.Ala457= | XP_047297518.1:p.Ala457Val | XP_047297518.1:p.Ala457Gly |
| BLOC-3 complex member HPS4 isoform X3 | XP_047297519.1:p.Ala457= | XP_047297519.1:p.Ala457Val | XP_047297519.1:p.Ala457Gly |
| BLOC-3 complex member HPS4 isoform X4 | XP_047297520.1:p.Ala439= | XP_047297520.1:p.Ala439Val | XP_047297520.1:p.Ala439Gly |
| BLOC-3 complex member HPS4 isoform X3 | XP_047297517.1:p.Ala457= | XP_047297517.1:p.Ala457Val | XP_047297517.1:p.Ala457Gly |
| BLOC-3 complex member HPS4 isoform X10 | XP_047297537.1:p.Ala439= | XP_047297537.1:p.Ala439Val | XP_047297537.1:p.Ala439Gly |
| BLOC-3 complex member HPS4 isoform X10 | XP_047297539.1:p.Ala439= | XP_047297539.1:p.Ala439Val | XP_047297539.1:p.Ala439Gly |
| BLOC-3 complex member HPS4 isoform X8 | XP_047297531.1:p.Ala457= | XP_047297531.1:p.Ala457Val | XP_047297531.1:p.Ala457Gly |
| BLOC-3 complex member HPS4 isoform X8 | XP_047297532.1:p.Ala457= | XP_047297532.1:p.Ala457Val | XP_047297532.1:p.Ala457Gly |
| BLOC-3 complex member HPS4 isoform X8 | XP_047297533.1:p.Ala457= | XP_047297533.1:p.Ala457Val | XP_047297533.1:p.Ala457Gly |
| BLOC-3 complex member HPS4 isoform X10 | XP_047297538.1:p.Ala439= | XP_047297538.1:p.Ala439Val | XP_047297538.1:p.Ala439Gly |
| BLOC-3 complex member HPS4 isoform X6 | XP_047297525.1:p.Ala439= | XP_047297525.1:p.Ala439Val | XP_047297525.1:p.Ala439Gly |
| BLOC-3 complex member HPS4 isoform X5 | XP_047297521.1:p.Ala457= | XP_047297521.1:p.Ala457Val | XP_047297521.1:p.Ala457Gly |
| BLOC-3 complex member HPS4 isoform X5 | XP_047297522.1:p.Ala457= | XP_047297522.1:p.Ala457Val | XP_047297522.1:p.Ala457Gly |
| BLOC-3 complex member HPS4 isoform X6 | XP_047297524.1:p.Ala439= | XP_047297524.1:p.Ala439Val | XP_047297524.1:p.Ala439Gly |
| BLOC-3 complex member HPS4 isoform X5 | XP_047297523.1:p.Ala457= | XP_047297523.1:p.Ala457Val | XP_047297523.1:p.Ala457Gly |
| Hermansky-Pudlak syndrome 4 protein isoform X6 | XP_047297526.1:p.Ala439= | XP_047297526.1:p.Ala439Val | XP_047297526.1:p.Ala439Gly |
| BLOC-3 complex member HPS4 isoform X7 | XP_047297529.1:p.Ala457= | XP_047297529.1:p.Ala457Val | XP_047297529.1:p.Ala457Gly |
| BLOC-3 complex member HPS4 isoform X9 | XP_047297534.1:p.Ala439= | XP_047297534.1:p.Ala439Val | XP_047297534.1:p.Ala439Gly |
| BLOC-3 complex member HPS4 isoform X9 | XP_047297536.1:p.Ala439= | XP_047297536.1:p.Ala439Val | XP_047297536.1:p.Ala439Gly |
| BLOC-3 complex member HPS4 isoform X7 | XP_047297527.1:p.Ala457= | XP_047297527.1:p.Ala457Val | XP_047297527.1:p.Ala457Gly |
| BLOC-3 complex member HPS4 isoform X7 | XP_047297528.1:p.Ala457= | XP_047297528.1:p.Ala457Val | XP_047297528.1:p.Ala457Gly |
| BLOC-3 complex member HPS4 isoform X7 | XP_047297530.1:p.Ala457= | XP_047297530.1:p.Ala457Val | XP_047297530.1:p.Ala457Gly |
| BLOC-3 complex member HPS4 isoform X9 | XP_047297535.1:p.Ala439= | XP_047297535.1:p.Ala439Val | XP_047297535.1:p.Ala439Gly |
| BLOC-3 complex member HPS4 isoform X14 | XP_047297540.1:p.Ala174= | XP_047297540.1:p.Ala174Val | XP_047297540.1:p.Ala174Gly |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
4 SubSNP,
5 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | EVA_EXAC | ss1694283619 | Apr 01, 2015 (144) |
| 2 | GNOMAD | ss2745042244 | Nov 08, 2017 (151) |
| 3 | GNOMAD | ss4363373695 | Apr 27, 2021 (155) |
| 4 | TOPMED | ss5106721033 | Apr 27, 2021 (155) |
| 5 | ExAC | NC_000022.10 - 26860280 | Oct 12, 2018 (152) |
| 6 | gnomAD - Genomes | NC_000022.11 - 26464314 | Apr 27, 2021 (155) |
| 7 | gnomAD - Exomes | NC_000022.10 - 26860280 | Jul 13, 2019 (153) |
| 8 | TopMed | NC_000022.11 - 26464314 | Apr 27, 2021 (155) |
| 9 | ALFA | NC_000022.11 - 26464314 | Apr 27, 2021 (155) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 5859921, 14372212, ss1694283619, ss2745042244 | NC_000022.10:26860279:G:A | NC_000022.11:26464313:G:A | (self) |
| 381829980, 14711814873, ss5106721033 | NC_000022.11:26464313:G:A | NC_000022.11:26464313:G:A | (self) |
| 567924294, 14711814873, ss4363373695 | NC_000022.11:26464313:G:C | NC_000022.11:26464313:G:C | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs767548244
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.