Name: rs192191246
Published: September 21, 2022
License: Open Access

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.

rs192191246

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:2323411 (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=0.002535 (671/264690, TOPMED)
A=0.002053 (288/140266, GnomAD)
A=0.00259 (49/18890, ALFA) (+ 9 more)
A=0.0025 (16/6404, 1000G_30x)
A=0.0020 (10/5008, 1000G)
A=0.0009 (4/4480, Estonian)
A=0.0052 (20/3854, ALSPAC)
A=0.0038 (14/3708, TWINSUK)
A=0.005 (5/998, GoNL)
A=0.03 (1/40, GENOME_DK)
G=0.5 (1/2, SGDP_PRJ)
A=0.5 (1/2, SGDP_PRJ)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CACNA1C : Intron 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	18890	G=0.99741	A=0.00259
European	Sub	14286	G=0.99741	A=0.00259
African	Sub	2946	G=0.9986	A=0.0014
African Others	Sub	114	G=1.000	A=0.000
African American	Sub	2832	G=0.9986	A=0.0014
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=1.000	A=0.000
Latin American 2	Sub	610	G=0.990	A=0.010
South Asian	Sub	98	G=1.00	A=0.00
Other	Sub	692	G=0.997	A=0.003

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	G=0.997465	A=0.002535
gnomAD - Genomes	Global	Study-wide	140266	G=0.997947	A=0.002053
gnomAD - Genomes	European	Sub	75950	G=0.99763	A=0.00237
gnomAD - Genomes	African	Sub	42056	G=0.99941	A=0.00059
gnomAD - Genomes	American	Sub	13648	G=0.99641	A=0.00359
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.9925	A=0.0075
gnomAD - Genomes	East Asian	Sub	3134	G=0.9997	A=0.0003
gnomAD - Genomes	Other	Sub	2154	G=0.9963	A=0.0037
Allele Frequency Aggregator	Total	Global	18890	G=0.99741	A=0.00259
Allele Frequency Aggregator	European	Sub	14286	G=0.99741	A=0.00259
Allele Frequency Aggregator	African	Sub	2946	G=0.9986	A=0.0014
Allele Frequency Aggregator	Other	Sub	692	G=0.997	A=0.003
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.990	A=0.010
Allele Frequency Aggregator	Latin American 1	Sub	146	G=1.000	A=0.000
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=0.9975	A=0.0025
1000Genomes_30x	African	Sub	1786	G=1.0000	A=0.0000
1000Genomes_30x	Europe	Sub	1266	G=0.9953	A=0.0047
1000Genomes_30x	South Asian	Sub	1202	G=0.9992	A=0.0008
1000Genomes_30x	East Asian	Sub	1170	G=1.0000	A=0.0000
1000Genomes_30x	American	Sub	980	G=0.991	A=0.009
1000Genomes	Global	Study-wide	5008	G=0.9980	A=0.0020
1000Genomes	African	Sub	1322	G=1.0000	A=0.0000
1000Genomes	East Asian	Sub	1008	G=1.0000	A=0.0000
1000Genomes	Europe	Sub	1006	G=0.9970	A=0.0030
1000Genomes	South Asian	Sub	978	G=0.999	A=0.001
1000Genomes	American	Sub	694	G=0.991	A=0.009
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9991	A=0.0009
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9948	A=0.0052
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9962	A=0.0038
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.995	A=0.005
The Danish reference pan genome	Danish	Study-wide	40	G=0.97	A=0.03
SGDP_PRJ	Global	Study-wide	2	G=0.5	A=0.5

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 12	NC_000012.12:g.2323411G>A
GRCh37.p13 chr 12	NC_000012.11:g.2432577G>A
CACNA1C RefSeqGene (LRG_334)	NG_008801.2:g.357626G>A
GRCh38.p14 chr 12 fix patch HG1815_PATCH	NW_018654718.1:g.671527G>A

Gene: CACNA1C, calcium voltage-gated channel subunit alpha1 C (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CACNA1C transcript variant 18	NM_000719.7:c.478-125565G… NM_000719.7:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 2	NM_001129827.2:c.478-1255… NM_001129827.2:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 3	NM_001129829.2:c.478-1255… NM_001129829.2:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 4	NM_001129830.3:c.478-1255… NM_001129830.3:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 5	NM_001129831.2:c.478-1255… NM_001129831.2:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 6	NM_001129832.2:c.478-1255… NM_001129832.2:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 7	NM_001129833.2:c.478-1255… NM_001129833.2:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 8	NM_001129834.2:c.478-1255… NM_001129834.2:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 9	NM_001129835.2:c.478-1255… NM_001129835.2:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 10	NM_001129836.2:c.478-1255… NM_001129836.2:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 11	NM_001129837.2:c.478-1255… NM_001129837.2:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 12	NM_001129838.2:c.478-1255… NM_001129838.2:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 13	NM_001129839.2:c.478-1255… NM_001129839.2:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 14	NM_001129840.2:c.478-1255… NM_001129840.2:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 15	NM_001129841.2:c.478-1255… NM_001129841.2:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 16	NM_001129842.2:c.478-1255… NM_001129842.2:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 17	NM_001129843.2:c.478-1255… NM_001129843.2:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 19	NM_001129844.2:c.478-1255… NM_001129844.2:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 20	NM_001129846.2:c.478-1255… NM_001129846.2:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 21	NM_001167623.2:c.478-1255… NM_001167623.2:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 22	NM_001167624.3:c.478-1255… NM_001167624.3:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 23	NM_001167625.2:c.478-1255… NM_001167625.2:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant 1	NM_199460.4:c.478-125565G… NM_199460.4:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X30	XM_006719017.3:c.568-1255… XM_006719017.3:c.568-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X28	XM_011521020.3:c.568-1255… XM_011521020.3:c.568-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X33	XM_011521023.4:c.478-1255… XM_011521023.4:c.478-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X1	XM_017019926.3:c.646-1255… XM_017019926.3:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X2	XM_017019927.3:c.646-1255… XM_017019927.3:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X4	XM_017019928.3:c.646-1255… XM_017019928.3:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X5	XM_017019929.3:c.646-1255… XM_017019929.3:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X6	XM_017019930.3:c.646-1255… XM_017019930.3:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X9	XM_017019931.3:c.646-1255… XM_017019931.3:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X11	XM_017019932.3:c.646-1255… XM_017019932.3:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X14	XM_017019933.3:c.646-1255… XM_017019933.3:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X16	XM_017019934.3:c.646-1255… XM_017019934.3:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X15	XM_017019935.3:c.646-1255… XM_017019935.3:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X18	XM_017019939.3:c.646-1255… XM_017019939.3:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X19	XM_017019943.3:c.646-1255… XM_017019943.3:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X21	XM_017019944.3:c.646-1255… XM_017019944.3:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X22	XM_017019945.3:c.646-1255… XM_017019945.3:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X20	XM_017019946.3:c.646-1255… XM_017019946.3:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X23	XM_017019947.3:c.646-1255… XM_017019947.3:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X24	XM_017019948.3:c.646-1255… XM_017019948.3:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X25	XM_017019949.3:c.646-1255… XM_017019949.3:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X26	XM_017019950.3:c.646-1255… XM_017019950.3:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X29	XM_017019953.2:c.568-1255… XM_017019953.2:c.568-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X31	XM_017019954.2:c.568-1255… XM_017019954.2:c.568-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X32	XM_017019955.3:c.646-1255… XM_017019955.3:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X3	XM_047429513.1:c.646-1255… XM_047429513.1:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X7	XM_047429514.1:c.646-1255… XM_047429514.1:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X8	XM_047429515.1:c.646-1255… XM_047429515.1:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X10	XM_047429516.1:c.646-1255… XM_047429516.1:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X12	XM_047429517.1:c.646-1255… XM_047429517.1:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X13	XM_047429518.1:c.646-1255… XM_047429518.1:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X17	XM_047429519.1:c.646-1255… XM_047429519.1:c.646-125565G>A	N/A	Intron Variant
CACNA1C transcript variant X27	XM_047429520.1:c.	N/A	Genic Upstream Transcript Variant

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

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 12	NC_000012.12:g.2323411=	NC_000012.12:g.2323411G>A
GRCh37.p13 chr 12	NC_000012.11:g.2432577=	NC_000012.11:g.2432577G>A
CACNA1C RefSeqGene (LRG_334)	NG_008801.2:g.357626=	NG_008801.2:g.357626G>A
GRCh38.p14 chr 12 fix patch HG1815_PATCH	NW_018654718.1:g.671527=	NW_018654718.1:g.671527G>A
CACNA1C transcript variant 18	NM_000719.6:c.478-125565=	NM_000719.6:c.478-125565G>A
CACNA1C transcript variant 18	NM_000719.7:c.478-125565=	NM_000719.7:c.478-125565G>A
CACNA1C transcript variant 2	NM_001129827.1:c.478-125565=	NM_001129827.1:c.478-125565G>A
CACNA1C transcript variant 2	NM_001129827.2:c.478-125565=	NM_001129827.2:c.478-125565G>A
CACNA1C transcript variant 3	NM_001129829.1:c.478-125565=	NM_001129829.1:c.478-125565G>A
CACNA1C transcript variant 3	NM_001129829.2:c.478-125565=	NM_001129829.2:c.478-125565G>A
CACNA1C transcript variant 4	NM_001129830.1:c.478-125565=	NM_001129830.1:c.478-125565G>A
CACNA1C transcript variant 4	NM_001129830.3:c.478-125565=	NM_001129830.3:c.478-125565G>A
CACNA1C transcript variant 5	NM_001129831.1:c.478-125565=	NM_001129831.1:c.478-125565G>A
CACNA1C transcript variant 5	NM_001129831.2:c.478-125565=	NM_001129831.2:c.478-125565G>A
CACNA1C transcript variant 6	NM_001129832.1:c.478-125565=	NM_001129832.1:c.478-125565G>A
CACNA1C transcript variant 6	NM_001129832.2:c.478-125565=	NM_001129832.2:c.478-125565G>A
CACNA1C transcript variant 7	NM_001129833.1:c.478-125565=	NM_001129833.1:c.478-125565G>A
CACNA1C transcript variant 7	NM_001129833.2:c.478-125565=	NM_001129833.2:c.478-125565G>A
CACNA1C transcript variant 8	NM_001129834.1:c.478-125565=	NM_001129834.1:c.478-125565G>A
CACNA1C transcript variant 8	NM_001129834.2:c.478-125565=	NM_001129834.2:c.478-125565G>A
CACNA1C transcript variant 9	NM_001129835.1:c.478-125565=	NM_001129835.1:c.478-125565G>A
CACNA1C transcript variant 9	NM_001129835.2:c.478-125565=	NM_001129835.2:c.478-125565G>A
CACNA1C transcript variant 10	NM_001129836.1:c.478-125565=	NM_001129836.1:c.478-125565G>A
CACNA1C transcript variant 10	NM_001129836.2:c.478-125565=	NM_001129836.2:c.478-125565G>A
CACNA1C transcript variant 11	NM_001129837.1:c.478-125565=	NM_001129837.1:c.478-125565G>A
CACNA1C transcript variant 11	NM_001129837.2:c.478-125565=	NM_001129837.2:c.478-125565G>A
CACNA1C transcript variant 12	NM_001129838.1:c.478-125565=	NM_001129838.1:c.478-125565G>A
CACNA1C transcript variant 12	NM_001129838.2:c.478-125565=	NM_001129838.2:c.478-125565G>A
CACNA1C transcript variant 13	NM_001129839.1:c.478-125565=	NM_001129839.1:c.478-125565G>A
CACNA1C transcript variant 13	NM_001129839.2:c.478-125565=	NM_001129839.2:c.478-125565G>A
CACNA1C transcript variant 14	NM_001129840.1:c.478-125565=	NM_001129840.1:c.478-125565G>A
CACNA1C transcript variant 14	NM_001129840.2:c.478-125565=	NM_001129840.2:c.478-125565G>A
CACNA1C transcript variant 15	NM_001129841.1:c.478-125565=	NM_001129841.1:c.478-125565G>A
CACNA1C transcript variant 15	NM_001129841.2:c.478-125565=	NM_001129841.2:c.478-125565G>A
CACNA1C transcript variant 16	NM_001129842.1:c.478-125565=	NM_001129842.1:c.478-125565G>A
CACNA1C transcript variant 16	NM_001129842.2:c.478-125565=	NM_001129842.2:c.478-125565G>A
CACNA1C transcript variant 17	NM_001129843.1:c.478-125565=	NM_001129843.1:c.478-125565G>A
CACNA1C transcript variant 17	NM_001129843.2:c.478-125565=	NM_001129843.2:c.478-125565G>A
CACNA1C transcript variant 19	NM_001129844.1:c.478-125565=	NM_001129844.1:c.478-125565G>A
CACNA1C transcript variant 19	NM_001129844.2:c.478-125565=	NM_001129844.2:c.478-125565G>A
CACNA1C transcript variant 20	NM_001129846.1:c.478-125565=	NM_001129846.1:c.478-125565G>A
CACNA1C transcript variant 20	NM_001129846.2:c.478-125565=	NM_001129846.2:c.478-125565G>A
CACNA1C transcript variant 21	NM_001167623.1:c.478-125565=	NM_001167623.1:c.478-125565G>A
CACNA1C transcript variant 21	NM_001167623.2:c.478-125565=	NM_001167623.2:c.478-125565G>A
CACNA1C transcript variant 22	NM_001167624.1:c.478-125565=	NM_001167624.1:c.478-125565G>A
CACNA1C transcript variant 22	NM_001167624.3:c.478-125565=	NM_001167624.3:c.478-125565G>A
CACNA1C transcript variant 23	NM_001167625.1:c.478-125565=	NM_001167625.1:c.478-125565G>A
CACNA1C transcript variant 23	NM_001167625.2:c.478-125565=	NM_001167625.2:c.478-125565G>A
CACNA1C transcript variant 1	NM_199460.2:c.478-125565=	NM_199460.2:c.478-125565G>A
CACNA1C transcript variant 1	NM_199460.4:c.478-125565=	NM_199460.4:c.478-125565G>A
CACNA1C transcript variant X1	XM_005253765.1:c.568-125565=	XM_005253765.1:c.568-125565G>A
CACNA1C transcript variant X2	XM_005253766.1:c.487-125565=	XM_005253766.1:c.487-125565G>A
CACNA1C transcript variant X3	XM_005253767.1:c.487-125565=	XM_005253767.1:c.487-125565G>A
CACNA1C transcript variant X4	XM_005253768.1:c.487-125565=	XM_005253768.1:c.487-125565G>A
CACNA1C transcript variant X5	XM_005253769.1:c.487-125565=	XM_005253769.1:c.487-125565G>A
CACNA1C transcript variant X6	XM_005253770.1:c.487-125565=	XM_005253770.1:c.487-125565G>A
CACNA1C transcript variant X7	XM_005253771.1:c.487-125565=	XM_005253771.1:c.487-125565G>A
CACNA1C transcript variant X8	XM_005253772.1:c.487-125565=	XM_005253772.1:c.487-125565G>A
CACNA1C transcript variant X9	XM_005253773.1:c.487-125565=	XM_005253773.1:c.487-125565G>A
CACNA1C transcript variant X10	XM_005253774.1:c.487-125565=	XM_005253774.1:c.487-125565G>A
CACNA1C transcript variant X11	XM_005253775.1:c.487-125565=	XM_005253775.1:c.487-125565G>A
CACNA1C transcript variant X12	XM_005253776.1:c.487-125565=	XM_005253776.1:c.487-125565G>A
CACNA1C transcript variant X13	XM_005253777.1:c.487-125565=	XM_005253777.1:c.487-125565G>A
CACNA1C transcript variant X14	XM_005253778.1:c.487-125565=	XM_005253778.1:c.487-125565G>A
CACNA1C transcript variant X15	XM_005253779.1:c.487-125565=	XM_005253779.1:c.487-125565G>A
CACNA1C transcript variant X16	XM_005253780.1:c.487-125565=	XM_005253780.1:c.487-125565G>A
CACNA1C transcript variant X17	XM_005253781.1:c.487-125565=	XM_005253781.1:c.487-125565G>A
CACNA1C transcript variant X18	XM_005253782.1:c.487-125565=	XM_005253782.1:c.487-125565G>A
CACNA1C transcript variant X19	XM_005253783.1:c.487-125565=	XM_005253783.1:c.487-125565G>A
CACNA1C transcript variant X20	XM_005253784.1:c.487-125565=	XM_005253784.1:c.487-125565G>A
CACNA1C transcript variant X21	XM_005253785.1:c.487-125565=	XM_005253785.1:c.487-125565G>A
CACNA1C transcript variant X22	XM_005253786.1:c.487-125565=	XM_005253786.1:c.487-125565G>A
CACNA1C transcript variant X23	XM_005253787.1:c.487-125565=	XM_005253787.1:c.487-125565G>A
CACNA1C transcript variant X30	XM_006719017.3:c.568-125565=	XM_006719017.3:c.568-125565G>A
CACNA1C transcript variant X28	XM_011521020.3:c.568-125565=	XM_011521020.3:c.568-125565G>A
CACNA1C transcript variant X33	XM_011521023.4:c.478-125565=	XM_011521023.4:c.478-125565G>A
CACNA1C transcript variant X1	XM_017019926.3:c.646-125565=	XM_017019926.3:c.646-125565G>A
CACNA1C transcript variant X2	XM_017019927.3:c.646-125565=	XM_017019927.3:c.646-125565G>A
CACNA1C transcript variant X4	XM_017019928.3:c.646-125565=	XM_017019928.3:c.646-125565G>A
CACNA1C transcript variant X5	XM_017019929.3:c.646-125565=	XM_017019929.3:c.646-125565G>A
CACNA1C transcript variant X6	XM_017019930.3:c.646-125565=	XM_017019930.3:c.646-125565G>A
CACNA1C transcript variant X9	XM_017019931.3:c.646-125565=	XM_017019931.3:c.646-125565G>A
CACNA1C transcript variant X11	XM_017019932.3:c.646-125565=	XM_017019932.3:c.646-125565G>A
CACNA1C transcript variant X14	XM_017019933.3:c.646-125565=	XM_017019933.3:c.646-125565G>A
CACNA1C transcript variant X16	XM_017019934.3:c.646-125565=	XM_017019934.3:c.646-125565G>A
CACNA1C transcript variant X15	XM_017019935.3:c.646-125565=	XM_017019935.3:c.646-125565G>A
CACNA1C transcript variant X18	XM_017019939.3:c.646-125565=	XM_017019939.3:c.646-125565G>A
CACNA1C transcript variant X19	XM_017019943.3:c.646-125565=	XM_017019943.3:c.646-125565G>A
CACNA1C transcript variant X21	XM_017019944.3:c.646-125565=	XM_017019944.3:c.646-125565G>A
CACNA1C transcript variant X22	XM_017019945.3:c.646-125565=	XM_017019945.3:c.646-125565G>A
CACNA1C transcript variant X20	XM_017019946.3:c.646-125565=	XM_017019946.3:c.646-125565G>A
CACNA1C transcript variant X23	XM_017019947.3:c.646-125565=	XM_017019947.3:c.646-125565G>A
CACNA1C transcript variant X24	XM_017019948.3:c.646-125565=	XM_017019948.3:c.646-125565G>A
CACNA1C transcript variant X25	XM_017019949.3:c.646-125565=	XM_017019949.3:c.646-125565G>A
CACNA1C transcript variant X26	XM_017019950.3:c.646-125565=	XM_017019950.3:c.646-125565G>A
CACNA1C transcript variant X29	XM_017019953.2:c.568-125565=	XM_017019953.2:c.568-125565G>A
CACNA1C transcript variant X31	XM_017019954.2:c.568-125565=	XM_017019954.2:c.568-125565G>A
CACNA1C transcript variant X32	XM_017019955.3:c.646-125565=	XM_017019955.3:c.646-125565G>A
CACNA1C transcript variant X3	XM_047429513.1:c.646-125565=	XM_047429513.1:c.646-125565G>A
CACNA1C transcript variant X7	XM_047429514.1:c.646-125565=	XM_047429514.1:c.646-125565G>A
CACNA1C transcript variant X8	XM_047429515.1:c.646-125565=	XM_047429515.1:c.646-125565G>A
CACNA1C transcript variant X10	XM_047429516.1:c.646-125565=	XM_047429516.1:c.646-125565G>A
CACNA1C transcript variant X12	XM_047429517.1:c.646-125565=	XM_047429517.1:c.646-125565G>A
CACNA1C transcript variant X13	XM_047429518.1:c.646-125565=	XM_047429518.1:c.646-125565G>A
CACNA1C transcript variant X17	XM_047429519.1:c.646-125565=	XM_047429519.1:c.646-125565G>A

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#.

22 SubSNP, 11 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss462655946	Sep 17, 2011 (135)
2	EVA-GONL	ss989168308	Aug 21, 2014 (142)
3	1000GENOMES	ss1343740893	Aug 21, 2014 (142)
4	EVA_GENOME_DK	ss1576072360	Apr 01, 2015 (144)
5	EVA_DECODE	ss1598839646	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1627882909	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1670876942	Apr 01, 2015 (144)
8	JJLAB	ss2027011560	Sep 14, 2016 (149)
9	HUMAN_LONGEVITY	ss2187287554	Dec 20, 2016 (150)
10	GNOMAD	ss2906607009	Nov 08, 2017 (151)
11	SWEGEN	ss3009093022	Nov 08, 2017 (151)
12	EGCUT_WGS	ss3676424022	Jul 13, 2019 (153)
13	EVA_DECODE	ss3692981210	Jul 13, 2019 (153)
14	SGDP_PRJ	ss3877545312	Apr 26, 2020 (154)
15	TOPMED	ss4906518403	Apr 27, 2021 (155)
16	1000G_HIGH_COVERAGE	ss5289574174	Oct 18, 2022 (156)
17	EVA	ss5403501729	Oct 18, 2022 (156)
18	HUGCELL_USP	ss5484492830	Oct 18, 2022 (156)
19	1000G_HIGH_COVERAGE	ss5586388901	Oct 18, 2022 (156)
20	EVA	ss5837495673	Oct 18, 2022 (156)
21	EVA	ss5903028045	Oct 18, 2022 (156)
22	EVA	ss5943804744	Oct 18, 2022 (156)
23	1000Genomes	NC_000012.11 - 2432577	Oct 12, 2018 (152)
24	1000Genomes_30x	NC_000012.12 - 2323411	Oct 18, 2022 (156)
25	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 2432577	Oct 12, 2018 (152)
26	Genetic variation in the Estonian population	NC_000012.11 - 2432577	Oct 12, 2018 (152)
27	The Danish reference pan genome	NC_000012.11 - 2432577	Apr 26, 2020 (154)
28	gnomAD - Genomes	NC_000012.12 - 2323411	Apr 27, 2021 (155)
29	Genome of the Netherlands Release 5	NC_000012.11 - 2432577	Apr 26, 2020 (154)
30	SGDP_PRJ	NC_000012.11 - 2432577	Apr 26, 2020 (154)
31	TopMed	NC_000012.12 - 2323411	Apr 27, 2021 (155)
32	UK 10K study - Twins	NC_000012.11 - 2432577	Oct 12, 2018 (152)
33	ALFA	NC_000012.12 - 2323411	Apr 27, 2021 (155)

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
ss1598839646	NC_000012.10:2302837:G:A	NC_000012.12:2323410:G:A	(self)
56350080, 31292832, 22162270, 2815367, 13960015, 29562292, 31292832, ss462655946, ss989168308, ss1343740893, ss1576072360, ss1627882909, ss1670876942, ss2027011560, ss2906607009, ss3009093022, ss3676424022, ss3877545312, ss5403501729, ss5837495673, ss5943804744	NC_000012.11:2432576:G:A	NC_000012.12:2323410:G:A	(self)
73914836, 397423572, 122064060, 1629975405, ss2187287554, ss3692981210, ss4906518403, ss5289574174, ss5484492830, ss5586388901, ss5903028045	NC_000012.12:2323410:G:A	NC_000012.12:2323410:G:A	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs192191246

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs192191246