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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.

rs191613214

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:1153830 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.012788 (1781/139276, GnomAD)
A=0.00985 (142/14420, ALFA)
A=0.0136 (87/6404, 1000G_30x) (+ 5 more)
A=0.0015 (8/5402, GnomAD_exome)
A=0.0070 (35/5008, 1000G)
A=0.009 (2/216, Qatari)
A=0.000 (0/198, ExAC)
G=0.42 (5/12, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CACNA1H : Synonymous 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 14420 G=0.99015 A=0.00985
European Sub 9824 G=0.9997 A=0.0003
African Sub 2946 G=0.9559 A=0.0441
African Others Sub 114 G=0.939 A=0.061
African American Sub 2832 G=0.9566 A=0.0434
Asian Sub 112 G=1.000 A=0.000
East Asian Sub 86 G=1.00 A=0.00
Other Asian Sub 26 G=1.00 A=0.00
Latin American 1 Sub 146 G=0.986 A=0.014
Latin American 2 Sub 610 G=0.997 A=0.003
South Asian Sub 98 G=1.00 A=0.00
Other Sub 684 G=0.993 A=0.007


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
gnomAD - Genomes Global Study-wide 139276 G=0.987212 A=0.012788
gnomAD - Genomes European Sub 75308 G=0.99985 A=0.00015
gnomAD - Genomes African Sub 41828 G=0.95967 A=0.04033
gnomAD - Genomes American Sub 13576 G=0.99595 A=0.00405
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3112 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2134 G=0.9869 A=0.0131
Allele Frequency Aggregator Total Global 14420 G=0.99015 A=0.00985
Allele Frequency Aggregator European Sub 9824 G=0.9997 A=0.0003
Allele Frequency Aggregator African Sub 2946 G=0.9559 A=0.0441
Allele Frequency Aggregator Other Sub 684 G=0.993 A=0.007
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.997 A=0.003
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.986 A=0.014
Allele Frequency Aggregator Asian Sub 112 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00
1000Genomes_30x Global Study-wide 6404 G=0.9864 A=0.0136
1000Genomes_30x African Sub 1786 G=0.9530 A=0.0470
1000Genomes_30x Europe Sub 1266 G=0.9992 A=0.0008
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=0.998 A=0.002
gnomAD - Exomes Global Study-wide 5402 G=0.9985 A=0.0015
gnomAD - Exomes European Sub 3032 G=1.0000 A=0.0000
gnomAD - Exomes Asian Sub 1034 G=1.0000 A=0.0000
gnomAD - Exomes American Sub 706 G=0.999 A=0.001
gnomAD - Exomes Ashkenazi Jewish Sub 274 G=1.000 A=0.000
gnomAD - Exomes African Sub 198 G=0.975 A=0.025
gnomAD - Exomes Other Sub 158 G=0.987 A=0.013
1000Genomes Global Study-wide 5008 G=0.9930 A=0.0070
1000Genomes African Sub 1322 G=0.9743 A=0.0257
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.999 A=0.001
Qatari Global Study-wide 216 G=0.991 A=0.009
ExAC Global Study-wide 198 G=1.000 A=0.000
ExAC Asian Sub 164 G=1.000 A=0.000
ExAC Europe Sub 18 G=1.00 A=0.00
ExAC African Sub 6 G=1.0 A=0.0
ExAC Other Sub 6 G=1.0 A=0.0
ExAC American Sub 4 G=1.0 A=0.0
SGDP_PRJ Global Study-wide 12 G=0.42 A=0.58
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 16 NC_000016.10:g.1153830G>A
GRCh37.p13 chr 16 NC_000016.9:g.1203830G>A
CACNA1H RefSeqGene NG_012647.1:g.5590G>A
Gene: CACNA1H, calcium voltage-gated channel subunit alpha1 H (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CACNA1H transcript variant 1 NM_021098.3:c.93G>A E [GAG] > E [GAA] Coding Sequence Variant
voltage-dependent T-type calcium channel subunit alpha-1H isoform a NP_066921.2:p.Glu31= E (Glu) > E (Glu) Synonymous Variant
CACNA1H transcript variant 2 NM_001005407.2:c.93G>A E [GAG] > E [GAA] Coding Sequence Variant
voltage-dependent T-type calcium channel subunit alpha-1H isoform b NP_001005407.1:p.Glu31= E (Glu) > E (Glu) Synonymous Variant
CACNA1H transcript variant X6 XM_011522724.3:c. N/A Genic Upstream Transcript Variant
CACNA1H transcript variant X1 XM_006720963.4:c.93G>A E [GAG] > E [GAA] Coding Sequence Variant
voltage-dependent T-type calcium channel subunit alpha-1H isoform X1 XP_006721026.1:p.Glu31= E (Glu) > E (Glu) Synonymous Variant
CACNA1H transcript variant X2 XM_005255652.5:c.93G>A E [GAG] > E [GAA] Coding Sequence Variant
voltage-dependent T-type calcium channel subunit alpha-1H isoform X2 XP_005255709.1:p.Glu31= E (Glu) > E (Glu) Synonymous Variant
CACNA1H transcript variant X3 XM_017023819.2:c.93G>A E [GAG] > E [GAA] Coding Sequence Variant
voltage-dependent T-type calcium channel subunit alpha-1H isoform X3 XP_016879308.1:p.Glu31= E (Glu) > E (Glu) Synonymous Variant
CACNA1H transcript variant X4 XM_006720964.4:c.93G>A E [GAG] > E [GAA] Coding Sequence Variant
voltage-dependent T-type calcium channel subunit alpha-1H isoform X4 XP_006721027.1:p.Glu31= E (Glu) > E (Glu) Synonymous Variant
CACNA1H transcript variant X5 XM_006720965.4:c.93G>A E [GAG] > E [GAA] Coding Sequence Variant
voltage-dependent T-type calcium channel subunit alpha-1H isoform X5 XP_006721028.1:p.Glu31= E (Glu) > E (Glu) Synonymous Variant
CACNA1H transcript variant X7 XM_047434836.1:c.93G>A E [GAG] > E [GAA] Coding Sequence Variant
voltage-dependent T-type calcium channel subunit alpha-1H isoform X7 XP_047290792.1:p.Glu31= E (Glu) > E (Glu) Synonymous Variant
CACNA1H transcript variant X8 XM_017023820.2:c.93G>A E [GAG] > E [GAA] Coding Sequence Variant
voltage-dependent T-type calcium channel subunit alpha-1H isoform X8 XP_016879309.1:p.Glu31= E (Glu) > E (Glu) Synonymous Variant
CACNA1H transcript variant X9 XM_017023821.2:c.93G>A E [GAG] > E [GAA] Coding Sequence Variant
voltage-dependent T-type calcium channel subunit alpha-1H isoform X8 XP_016879310.1:p.Glu31= E (Glu) > E (Glu) Synonymous Variant
CACNA1H transcript variant X10 XM_006720967.4:c.93G>A E [GAG] > E [GAA] Coding Sequence Variant
voltage-dependent T-type calcium channel subunit alpha-1H isoform X9 XP_006721030.1:p.Glu31= E (Glu) > E (Glu) Synonymous Variant
CACNA1H transcript variant X11 XM_006720968.4:c.93G>A E [GAG] > E [GAA] Coding Sequence Variant
voltage-dependent T-type calcium channel subunit alpha-1H isoform X10 XP_006721031.1:p.Glu31= E (Glu) > E (Glu) Synonymous Variant
CACNA1H transcript variant X12 XM_011522727.4:c.93G>A E [GAG] > E [GAA] Coding Sequence Variant
voltage-dependent T-type calcium channel subunit alpha-1H isoform X11 XP_011521029.1:p.Glu31= E (Glu) > E (Glu) Synonymous Variant
CACNA1H transcript variant X13 XR_002957850.2:n.476G>A 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.

Allele: A (allele ID: 465600 )
ClinVar Accession Disease Names Clinical Significance
RCV000711135.6 not provided Benign-Likely-Benign
RCV001083720.5 Hyperaldosteronism, familial, type IV,Idiopathic generalized epilepsy Benign
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
GRCh38.p14 chr 16 NC_000016.10:g.1153830= NC_000016.10:g.1153830G>A
GRCh37.p13 chr 16 NC_000016.9:g.1203830= NC_000016.9:g.1203830G>A
CACNA1H RefSeqGene NG_012647.1:g.5590= NG_012647.1:g.5590G>A
CACNA1H transcript variant 1 NM_021098.3:c.93= NM_021098.3:c.93G>A
CACNA1H transcript variant 1 NM_021098.2:c.93= NM_021098.2:c.93G>A
CACNA1H transcript variant 2 NM_001005407.2:c.93= NM_001005407.2:c.93G>A
CACNA1H transcript variant 2 NM_001005407.1:c.93= NM_001005407.1:c.93G>A
CACNA1H transcript variant X2 XM_005255652.5:c.93= XM_005255652.5:c.93G>A
CACNA1H transcript variant X2 XM_005255652.4:c.93= XM_005255652.4:c.93G>A
CACNA1H transcript variant X2 XM_005255652.3:c.93= XM_005255652.3:c.93G>A
CACNA1H transcript variant X1 XM_005255652.2:c.93= XM_005255652.2:c.93G>A
CACNA1H transcript variant X1 XM_005255652.1:c.93= XM_005255652.1:c.93G>A
CACNA1H transcript variant X1 XM_006720963.4:c.93= XM_006720963.4:c.93G>A
CACNA1H transcript variant X1 XM_006720963.3:c.93= XM_006720963.3:c.93G>A
CACNA1H transcript variant X1 XM_006720963.2:c.93= XM_006720963.2:c.93G>A
CACNA1H transcript variant X2 XM_006720963.1:c.93= XM_006720963.1:c.93G>A
CACNA1H transcript variant X4 XM_006720964.4:c.93= XM_006720964.4:c.93G>A
CACNA1H transcript variant X4 XM_006720964.3:c.93= XM_006720964.3:c.93G>A
CACNA1H transcript variant X3 XM_006720964.2:c.93= XM_006720964.2:c.93G>A
CACNA1H transcript variant X3 XM_006720964.1:c.93= XM_006720964.1:c.93G>A
CACNA1H transcript variant X5 XM_006720965.4:c.93= XM_006720965.4:c.93G>A
CACNA1H transcript variant X5 XM_006720965.3:c.93= XM_006720965.3:c.93G>A
CACNA1H transcript variant X4 XM_006720965.2:c.93= XM_006720965.2:c.93G>A
CACNA1H transcript variant X4 XM_006720965.1:c.93= XM_006720965.1:c.93G>A
CACNA1H transcript variant X10 XM_006720967.4:c.93= XM_006720967.4:c.93G>A
CACNA1H transcript variant X9 XM_006720967.3:c.93= XM_006720967.3:c.93G>A
CACNA1H transcript variant X6 XM_006720967.2:c.93= XM_006720967.2:c.93G>A
CACNA1H transcript variant X6 XM_006720967.1:c.93= XM_006720967.1:c.93G>A
CACNA1H transcript variant X11 XM_006720968.4:c.93= XM_006720968.4:c.93G>A
CACNA1H transcript variant X10 XM_006720968.3:c.93= XM_006720968.3:c.93G>A
CACNA1H transcript variant X7 XM_006720968.2:c.93= XM_006720968.2:c.93G>A
CACNA1H transcript variant X7 XM_006720968.1:c.93= XM_006720968.1:c.93G>A
CACNA1H transcript variant X12 XM_011522727.4:c.93= XM_011522727.4:c.93G>A
CACNA1H transcript variant X11 XM_011522727.3:c.93= XM_011522727.3:c.93G>A
CACNA1H transcript variant X11 XM_011522727.2:c.93= XM_011522727.2:c.93G>A
CACNA1H transcript variant X11 XM_011522727.1:c.93= XM_011522727.1:c.93G>A
CACNA1H transcript variant X3 XM_017023819.2:c.93= XM_017023819.2:c.93G>A
CACNA1H transcript variant X3 XM_017023819.1:c.93= XM_017023819.1:c.93G>A
CACNA1H transcript variant X8 XM_017023820.2:c.93= XM_017023820.2:c.93G>A
CACNA1H transcript variant X7 XM_017023820.1:c.93= XM_017023820.1:c.93G>A
CACNA1H transcript variant X9 XM_017023821.2:c.93= XM_017023821.2:c.93G>A
CACNA1H transcript variant X8 XM_017023821.1:c.93= XM_017023821.1:c.93G>A
CACNA1H transcript variant X13 XR_002957850.2:n.476= XR_002957850.2:n.476G>A
CACNA1H transcript variant X12 XR_002957850.1:n.191= XR_002957850.1:n.191G>A
CACNA1H transcript variant X7 XM_047434836.1:c.93= XM_047434836.1:c.93G>A
voltage-dependent T-type calcium channel subunit alpha-1H isoform a NP_066921.2:p.Glu31= NP_066921.2:p.Glu31=
voltage-dependent T-type calcium channel subunit alpha-1H isoform b NP_001005407.1:p.Glu31= NP_001005407.1:p.Glu31=
voltage-dependent T-type calcium channel subunit alpha-1H isoform X2 XP_005255709.1:p.Glu31= XP_005255709.1:p.Glu31=
voltage-dependent T-type calcium channel subunit alpha-1H isoform X1 XP_006721026.1:p.Glu31= XP_006721026.1:p.Glu31=
voltage-dependent T-type calcium channel subunit alpha-1H isoform X4 XP_006721027.1:p.Glu31= XP_006721027.1:p.Glu31=
voltage-dependent T-type calcium channel subunit alpha-1H isoform X5 XP_006721028.1:p.Glu31= XP_006721028.1:p.Glu31=
voltage-dependent T-type calcium channel subunit alpha-1H isoform X9 XP_006721030.1:p.Glu31= XP_006721030.1:p.Glu31=
voltage-dependent T-type calcium channel subunit alpha-1H isoform X10 XP_006721031.1:p.Glu31= XP_006721031.1:p.Glu31=
voltage-dependent T-type calcium channel subunit alpha-1H isoform X11 XP_011521029.1:p.Glu31= XP_011521029.1:p.Glu31=
voltage-dependent T-type calcium channel subunit alpha-1H isoform X3 XP_016879308.1:p.Glu31= XP_016879308.1:p.Glu31=
voltage-dependent T-type calcium channel subunit alpha-1H isoform X8 XP_016879309.1:p.Glu31= XP_016879309.1:p.Glu31=
voltage-dependent T-type calcium channel subunit alpha-1H isoform X8 XP_016879310.1:p.Glu31= XP_016879310.1:p.Glu31=
voltage-dependent T-type calcium channel subunit alpha-1H isoform X7 XP_047290792.1:p.Glu31= XP_047290792.1:p.Glu31=
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#.

16 SubSNP, 8 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss464401887 Sep 17, 2011 (135)
2 1000GENOMES ss1354997918 Aug 21, 2014 (142)
3 EVA_EXAC ss1692056261 Apr 01, 2015 (144)
4 WEILL_CORNELL_DGM ss1935591949 Feb 12, 2016 (147)
5 GNOMAD ss2741601692 Nov 08, 2017 (151)
6 GNOMAD ss2749416762 Nov 08, 2017 (151)
7 GNOMAD ss2939255877 Nov 08, 2017 (151)
8 KHV_HUMAN_GENOMES ss3818868710 Jul 13, 2019 (153)
9 SGDP_PRJ ss3883737932 Apr 27, 2020 (154)
10 1000G_HIGH_COVERAGE ss5299797977 Oct 17, 2022 (156)
11 EVA ss5421708852 Oct 17, 2022 (156)
12 HUGCELL_USP ss5493366713 Oct 17, 2022 (156)
13 1000G_HIGH_COVERAGE ss5601865840 Oct 17, 2022 (156)
14 SANFORD_IMAGENETICS ss5658276503 Oct 17, 2022 (156)
15 EVA ss5897906777 Oct 17, 2022 (156)
16 EVA ss5949702366 Oct 17, 2022 (156)
17 1000Genomes NC_000016.9 - 1203830 Oct 12, 2018 (152)
18 1000Genomes_30x NC_000016.10 - 1153830 Oct 17, 2022 (156)
19 ExAC NC_000016.9 - 1203830 Oct 12, 2018 (152)
20 gnomAD - Genomes NC_000016.10 - 1153830 Apr 26, 2021 (155)
21 gnomAD - Exomes NC_000016.9 - 1203830 Jul 13, 2019 (153)
22 Qatari NC_000016.9 - 1203830 Apr 27, 2020 (154)
23 SGDP_PRJ NC_000016.9 - 1203830 Apr 27, 2020 (154)
24 ALFA NC_000016.10 - 1153830 Apr 26, 2021 (155)
25 ClinVar RCV000711135.6 Oct 17, 2022 (156)
26 ClinVar RCV001083720.5 Oct 17, 2022 (156)
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
68123695, 2446765, 10873409, 17633871, 35754912, ss464401887, ss1354997918, ss1692056261, ss1935591949, ss2741601692, ss2749416762, ss2939255877, ss3883737932, ss5421708852, ss5658276503, ss5949702366 NC_000016.9:1203829:G:A NC_000016.10:1153829:G:A (self)
RCV000711135.6, RCV001083720.5, 89391775, 480139472, 769828956, ss3818868710, ss5299797977, ss5493366713, ss5601865840, ss5897906777 NC_000016.10:1153829:G:A NC_000016.10:1153829:G:A (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 rs191613214

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
Top 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.

Software version is: 2.0.1.post761+d5e8e07