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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs142884344

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:7663988 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000011 (3/264690, TOPMED)
G=0.000008 (2/251168, GnomAD_exome)
G=0.000007 (1/140240, GnomAD) (+ 3 more)
G=0.000016 (2/121240, ExAC)
G=0.00000 (0/14050, ALFA)
G=0.00015 (2/13006, GO-ESP)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CAMTA1 : Missense Variant
Publications
1 citation
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 30344 A=0.99997 G=0.00003
European Sub 19716 A=0.99995 G=0.00005
African Sub 7732 A=1.0000 G=0.0000
African Others Sub 298 A=1.000 G=0.000
African American Sub 7434 A=1.0000 G=0.0000
Asian Sub 112 A=1.000 G=0.000
East Asian Sub 86 A=1.00 G=0.00
Other Asian Sub 26 A=1.00 G=0.00
Latin American 1 Sub 146 A=1.000 G=0.000
Latin American 2 Sub 610 A=1.000 G=0.000
South Asian Sub 98 A=1.00 G=0.00
Other Sub 1930 A=1.0000 G=0.0000


Help

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 A=0.999989 G=0.000011
gnomAD - Exomes Global Study-wide 251168 A=0.999992 G=0.000008
gnomAD - Exomes European Sub 135104 A=0.999985 G=0.000015
gnomAD - Exomes Asian Sub 49006 A=1.00000 G=0.00000
gnomAD - Exomes American Sub 34590 A=1.00000 G=0.00000
gnomAD - Exomes African Sub 16254 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6134 A=1.0000 G=0.0000
gnomAD - Genomes Global Study-wide 140240 A=0.999993 G=0.000007
gnomAD - Genomes European Sub 75948 A=0.99999 G=0.00001
gnomAD - Genomes African Sub 42026 A=1.00000 G=0.00000
gnomAD - Genomes American Sub 13662 A=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3128 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2154 A=1.0000 G=0.0000
ExAC Global Study-wide 121240 A=0.999984 G=0.000016
ExAC Europe Sub 73240 A=0.99997 G=0.00003
ExAC Asian Sub 25144 A=1.00000 G=0.00000
ExAC American Sub 11570 A=1.00000 G=0.00000
ExAC African Sub 10382 A=1.00000 G=0.00000
ExAC Other Sub 904 A=1.000 G=0.000
Allele Frequency Aggregator Total Global 14050 A=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 9690 A=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2898 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 A=1.000 G=0.000
Allele Frequency Aggregator Other Sub 496 A=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 112 A=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 A=1.00 G=0.00
GO Exome Sequencing Project Global Study-wide 13006 A=0.99985 G=0.00015
GO Exome Sequencing Project European American Sub 8600 A=0.9998 G=0.0002
GO Exome Sequencing Project African American Sub 4406 A=1.0000 G=0.0000
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 1 NC_000001.11:g.7663988A>G
GRCh37.p13 chr 1 NC_000001.10:g.7724048A>G
CAMTA1 RefSeqGene NG_053148.1:g.883665A>G
Gene: CAMTA1, calmodulin binding transcription activator 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CAMTA1 transcript variant 9 NM_001349613.1:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 10 NM_001349614.1:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 11 NM_001349615.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 12 NM_001349616.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 13 NM_001349617.1:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 14 NM_001349618.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 15 NM_001349619.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 16 NM_001349620.1:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 17 NM_001349621.1:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 18 NM_001349622.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 19 NM_001349623.1:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 20 NM_001349624.3:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 21 NM_001349625.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 22 NM_001349626.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant 2 NM_001195563.2:c. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant 3 NM_001242701.2:c. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant 23 NM_001349627.2:c. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant 1 NM_015215.4:c.1441A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform a NP_056030.1:p.Met481Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant 7 NM_001349610.2:c.1441A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform f NP_001336539.1:p.Met481Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant 6 NM_001349609.2:c.1441A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform e NP_001336538.1:p.Met481Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant 8 NM_001349612.2:c.1351A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform g NP_001336541.1:p.Met451Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant 5 NM_001349608.2:c.1351A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform d NP_001336537.1:p.Met451Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant 4 NR_038934.2:n. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant 25 NR_146202.2:n. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant 26 NR_146203.2:n. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant 27 NR_146204.2:n. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant X18 XM_024454329.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant X19 XM_024454330.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant X20 XM_024454331.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant X21 XM_024454332.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant X22 XM_024454333.2:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant X23 XM_024454334.1:c. N/A Genic Upstream Transcript Variant
CAMTA1 transcript variant X24 XM_017000780.3:c. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant X25 XM_017000781.2:c. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant X1 XM_011541083.3:c.1441A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X1 XP_011539385.1:p.Met481Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant X2 XM_011541084.3:c.1441A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X2 XP_011539386.1:p.Met481Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant X3 XM_047415988.1:c.1429A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X3 XP_047271944.1:p.Met477Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant X4 XM_011541086.4:c.1441A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X4 XP_011539388.1:p.Met481Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant X5 XM_017000774.3:c.1441A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X5 XP_016856263.1:p.Met481Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant X6 XM_011541087.3:c.1369A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X6 XP_011539389.1:p.Met457Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant X7 XM_047415993.1:c.1441A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X7 XP_047271949.1:p.Met481Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant X8 XM_011541088.3:c.1351A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X8 XP_011539390.1:p.Met451Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant X9 XM_047415997.1:c.1369A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X9 XP_047271953.1:p.Met457Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant X10 XM_047415999.1:c.1351A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X10 XP_047271955.1:p.Met451Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant X11 XM_047416005.1:c.1279A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X11 XP_047271961.1:p.Met427Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant X12 XM_047416009.1:c.1123A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X12 XP_047271965.1:p.Met375Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant X13 XM_011541090.4:c.1441A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X13 XP_011539392.1:p.Met481Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant X14 XM_017000777.2:c.1441A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X14 XP_016856266.1:p.Met481Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant X14 XM_017000778.2:c.1441A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X14 XP_016856267.1:p.Met481Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant X16 XM_047416020.1:c.1369A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X16 XP_047271976.1:p.Met457Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant X15 XM_047416024.1:c.1279A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X15 XP_047271980.1:p.Met427Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant X16 XM_011541091.3:c.1441A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X16 XP_011539393.1:p.Met481Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant X17 XM_011541092.4:c.1441A>G M [ATG] > V [GTG] Coding Sequence Variant
calmodulin-binding transcription activator 1 isoform X17 XP_011539394.1:p.Met481Val M (Met) > V (Val) Missense Variant
CAMTA1 transcript variant X26 XR_001737062.2:n. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant X28 XR_001737064.2:n. N/A Genic Downstream Transcript Variant
CAMTA1 transcript variant X27 XR_007057950.1:n. N/A Genic Downstream 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.

Allele: G (allele ID: 427864 )
ClinVar Accession Disease Names Clinical Significance
RCV000501397.5 not specified Uncertain-Significance
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 A= G
GRCh38.p14 chr 1 NC_000001.11:g.7663988= NC_000001.11:g.7663988A>G
GRCh37.p13 chr 1 NC_000001.10:g.7724048= NC_000001.10:g.7724048A>G
CAMTA1 RefSeqGene NG_053148.1:g.883665= NG_053148.1:g.883665A>G
CAMTA1 transcript variant 1 NM_015215.4:c.1441= NM_015215.4:c.1441A>G
CAMTA1 transcript variant 1 NM_015215.3:c.1441= NM_015215.3:c.1441A>G
CAMTA1 transcript variant 1 NM_015215.2:c.1441= NM_015215.2:c.1441A>G
CAMTA1 transcript variant 5 NM_001349608.2:c.1351= NM_001349608.2:c.1351A>G
CAMTA1 transcript variant 5 NM_001349608.1:c.1351= NM_001349608.1:c.1351A>G
CAMTA1 transcript variant 7 NM_001349610.2:c.1441= NM_001349610.2:c.1441A>G
CAMTA1 transcript variant 7 NM_001349610.1:c.1441= NM_001349610.1:c.1441A>G
CAMTA1 transcript variant 6 NM_001349609.2:c.1441= NM_001349609.2:c.1441A>G
CAMTA1 transcript variant 6 NM_001349609.1:c.1441= NM_001349609.1:c.1441A>G
CAMTA1 transcript variant 8 NM_001349612.2:c.1351= NM_001349612.2:c.1351A>G
CAMTA1 transcript variant 8 NM_001349612.1:c.1351= NM_001349612.1:c.1351A>G
CAMTA1 transcript variant 28 NM_001410737.1:c.1441= NM_001410737.1:c.1441A>G
CAMTA1 transcript variant 29 NM_001410738.1:c.1369= NM_001410738.1:c.1369A>G
CAMTA1 transcript variant X4 XM_011541086.4:c.1441= XM_011541086.4:c.1441A>G
CAMTA1 transcript variant X3 XM_011541086.3:c.1441= XM_011541086.3:c.1441A>G
CAMTA1 transcript variant X5 XM_011541086.2:c.1441= XM_011541086.2:c.1441A>G
CAMTA1 transcript variant X4 XM_011541086.1:c.1441= XM_011541086.1:c.1441A>G
CAMTA1 transcript variant X13 XM_011541090.4:c.1441= XM_011541090.4:c.1441A>G
CAMTA1 transcript variant X7 XM_011541090.3:c.1441= XM_011541090.3:c.1441A>G
CAMTA1 transcript variant X12 XM_011541090.2:c.1441= XM_011541090.2:c.1441A>G
CAMTA1 transcript variant X8 XM_011541090.1:c.1441= XM_011541090.1:c.1441A>G
CAMTA1 transcript variant X17 XM_011541092.4:c.1441= XM_011541092.4:c.1441A>G
CAMTA1 transcript variant X11 XM_011541092.3:c.1441= XM_011541092.3:c.1441A>G
CAMTA1 transcript variant X17 XM_011541092.2:c.1441= XM_011541092.2:c.1441A>G
CAMTA1 transcript variant X10 XM_011541092.1:c.1441= XM_011541092.1:c.1441A>G
CAMTA1 transcript variant X2 XM_011541084.3:c.1441= XM_011541084.3:c.1441A>G
CAMTA1 transcript variant X2 XM_011541084.2:c.1441= XM_011541084.2:c.1441A>G
CAMTA1 transcript variant X2 XM_011541084.1:c.1441= XM_011541084.1:c.1441A>G
CAMTA1 transcript variant X1 XM_011541083.3:c.1441= XM_011541083.3:c.1441A>G
CAMTA1 transcript variant X1 XM_011541083.2:c.1441= XM_011541083.2:c.1441A>G
CAMTA1 transcript variant X1 XM_011541083.1:c.1441= XM_011541083.1:c.1441A>G
CAMTA1 transcript variant X8 XM_011541088.3:c.1351= XM_011541088.3:c.1351A>G
CAMTA1 transcript variant X6 XM_011541088.2:c.1351= XM_011541088.2:c.1351A>G
CAMTA1 transcript variant X6 XM_011541088.1:c.1351= XM_011541088.1:c.1351A>G
CAMTA1 transcript variant X6 XM_011541087.3:c.1369= XM_011541087.3:c.1369A>G
CAMTA1 transcript variant X5 XM_011541087.2:c.1369= XM_011541087.2:c.1369A>G
CAMTA1 transcript variant X5 XM_011541087.1:c.1369= XM_011541087.1:c.1369A>G
CAMTA1 transcript variant X5 XM_017000774.3:c.1441= XM_017000774.3:c.1441A>G
CAMTA1 transcript variant X4 XM_017000774.2:c.1441= XM_017000774.2:c.1441A>G
CAMTA1 transcript variant X6 XM_017000774.1:c.1441= XM_017000774.1:c.1441A>G
CAMTA1 transcript variant X16 XM_011541091.3:c.1441= XM_011541091.3:c.1441A>G
CAMTA1 transcript variant X10 XM_011541091.2:c.1441= XM_011541091.2:c.1441A>G
CAMTA1 transcript variant X9 XM_011541091.1:c.1441= XM_011541091.1:c.1441A>G
CAMTA1 transcript variant X14 XM_017000778.2:c.1441= XM_017000778.2:c.1441A>G
CAMTA1 transcript variant X9 XM_017000778.1:c.1441= XM_017000778.1:c.1441A>G
CAMTA1 transcript variant X14 XM_017000777.2:c.1441= XM_017000777.2:c.1441A>G
CAMTA1 transcript variant X3 XM_047415988.1:c.1429= XM_047415988.1:c.1429A>G
CAMTA1 transcript variant X12 XM_047416009.1:c.1123= XM_047416009.1:c.1123A>G
CAMTA1 transcript variant X10 XM_047415999.1:c.1351= XM_047415999.1:c.1351A>G
CAMTA1 transcript variant X9 XM_047415997.1:c.1369= XM_047415997.1:c.1369A>G
CAMTA1 transcript variant X11 XM_047416005.1:c.1279= XM_047416005.1:c.1279A>G
CAMTA1 transcript variant X16 XM_047416020.1:c.1369= XM_047416020.1:c.1369A>G
CAMTA1 transcript variant X15 XM_047416024.1:c.1279= XM_047416024.1:c.1279A>G
CAMTA1 transcript variant X7 XM_047415993.1:c.1441= XM_047415993.1:c.1441A>G
calmodulin-binding transcription activator 1 isoform a NP_056030.1:p.Met481= NP_056030.1:p.Met481Val
calmodulin-binding transcription activator 1 isoform d NP_001336537.1:p.Met451= NP_001336537.1:p.Met451Val
calmodulin-binding transcription activator 1 isoform f NP_001336539.1:p.Met481= NP_001336539.1:p.Met481Val
calmodulin-binding transcription activator 1 isoform e NP_001336538.1:p.Met481= NP_001336538.1:p.Met481Val
calmodulin-binding transcription activator 1 isoform g NP_001336541.1:p.Met451= NP_001336541.1:p.Met451Val
calmodulin-binding transcription activator 1 isoform X4 XP_011539388.1:p.Met481= XP_011539388.1:p.Met481Val
calmodulin-binding transcription activator 1 isoform X13 XP_011539392.1:p.Met481= XP_011539392.1:p.Met481Val
calmodulin-binding transcription activator 1 isoform X17 XP_011539394.1:p.Met481= XP_011539394.1:p.Met481Val
calmodulin-binding transcription activator 1 isoform X2 XP_011539386.1:p.Met481= XP_011539386.1:p.Met481Val
calmodulin-binding transcription activator 1 isoform X1 XP_011539385.1:p.Met481= XP_011539385.1:p.Met481Val
calmodulin-binding transcription activator 1 isoform X8 XP_011539390.1:p.Met451= XP_011539390.1:p.Met451Val
calmodulin-binding transcription activator 1 isoform X6 XP_011539389.1:p.Met457= XP_011539389.1:p.Met457Val
calmodulin-binding transcription activator 1 isoform X5 XP_016856263.1:p.Met481= XP_016856263.1:p.Met481Val
calmodulin-binding transcription activator 1 isoform X16 XP_011539393.1:p.Met481= XP_011539393.1:p.Met481Val
calmodulin-binding transcription activator 1 isoform X14 XP_016856267.1:p.Met481= XP_016856267.1:p.Met481Val
calmodulin-binding transcription activator 1 isoform X14 XP_016856266.1:p.Met481= XP_016856266.1:p.Met481Val
calmodulin-binding transcription activator 1 isoform X3 XP_047271944.1:p.Met477= XP_047271944.1:p.Met477Val
calmodulin-binding transcription activator 1 isoform X12 XP_047271965.1:p.Met375= XP_047271965.1:p.Met375Val
calmodulin-binding transcription activator 1 isoform X10 XP_047271955.1:p.Met451= XP_047271955.1:p.Met451Val
calmodulin-binding transcription activator 1 isoform X9 XP_047271953.1:p.Met457= XP_047271953.1:p.Met457Val
calmodulin-binding transcription activator 1 isoform X11 XP_047271961.1:p.Met427= XP_047271961.1:p.Met427Val
calmodulin-binding transcription activator 1 isoform X16 XP_047271976.1:p.Met457= XP_047271976.1:p.Met457Val
calmodulin-binding transcription activator 1 isoform X15 XP_047271980.1:p.Met427= XP_047271980.1:p.Met427Val
calmodulin-binding transcription activator 1 isoform X7 XP_047271949.1:p.Met481= XP_047271949.1:p.Met481Val
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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#.

7 SubSNP, 6 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss341929421 May 09, 2011 (134)
2 EVA_EXAC ss1685277147 Apr 01, 2015 (144)
3 GNOMAD ss2731080876 Nov 08, 2017 (151)
4 GNOMAD ss2746202887 Nov 08, 2017 (151)
5 GNOMAD ss2751319003 Nov 08, 2017 (151)
6 EVA ss3823554266 Apr 25, 2020 (154)
7 TOPMED ss4438332015 Apr 27, 2021 (155)
8 ExAC NC_000001.10 - 7724048 Oct 11, 2018 (152)
9 gnomAD - Genomes NC_000001.11 - 7663988 Apr 27, 2021 (155)
10 gnomAD - Exomes NC_000001.10 - 7724048 Jul 12, 2019 (153)
11 GO Exome Sequencing Project NC_000001.10 - 7724048 Oct 11, 2018 (152)
12 TopMed NC_000001.11 - 7663988 Apr 27, 2021 (155)
13 ALFA NC_000001.11 - 7663988 Apr 27, 2021 (155)
14 ClinVar RCV000501397.5 Oct 17, 2022 (156)
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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
4454570, 95347, 12997, ss341929421, ss1685277147, ss2731080876, ss2746202887, ss2751319003, ss3823554266 NC_000001.10:7724047:A:G NC_000001.11:7663987:A:G (self)
RCV000501397.5, 1728618, 1938350, 13745995568, ss4438332015 NC_000001.11:7663987:A:G NC_000001.11:7663987:A:G (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs142884344
PMID Title Author Year Journal
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
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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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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.

Software version is: 2.0.1.post774+babeb33