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.
rs1479610808
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr12:2493247 (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=0.000007 (1/140306, GnomAD)G=0.00000 (0/10680, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- CACNA1C : 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: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 10680 | A=1.00000 | G=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| European | Sub | 6962 | A=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2294 | A=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 84 | A=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2210 | A=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 108 | A=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 84 | A=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 24 | A=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | A=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | A=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 94 | A=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 466 | A=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
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 | 140306 | A=0.999993 | G=0.000007 |
| gnomAD - Genomes | European | Sub | 75974 | A=1.00000 | G=0.00000 |
| gnomAD - Genomes | African | Sub | 42060 | A=0.99998 | G=0.00002 |
| gnomAD - Genomes | American | Sub | 13666 | A=1.00000 | G=0.00000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | A=1.0000 | G=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3132 | A=1.0000 | G=0.0000 |
| gnomAD - Genomes | Other | Sub | 2152 | A=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | Total | Global | 10680 | A=1.00000 | G=0.00000 |
| Allele Frequency Aggregator | European | Sub | 6962 | A=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2294 | 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 | 466 | 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 | 108 | A=1.000 | G=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 94 | A=1.00 | G=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 12 | NC_000012.12:g.2493247A>G |
| GRCh37.p13 chr 12 | NC_000012.11:g.2602413A>G |
| CACNA1C RefSeqGene (LRG_334) | NG_008801.2:g.527462A>G |
| GRCh38.p14 chr 12 fix patch HG1815_PATCH | NW_018654718.1:g.841363A>G |
Gene: CACNA1C, calcium voltage-gated channel subunit alpha1 C
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CACNA1C transcript variant 4 | NM_001129830.3:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 4 | NP_001123302.2:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 2 | NM_001129827.2:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 2 | NP_001123299.1:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 21 | NM_001167623.2:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 21 | NP_001161095.1:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 18 | NM_000719.7:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 18 | NP_000710.5:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 14 | NM_001129840.2:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 14 | NP_001123312.1:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 5 | NM_001129831.2:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 5 | NP_001123303.1:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 11 | NM_001129837.2:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 11 | NP_001123309.1:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 13 | NM_001129839.2:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 13 | NP_001123311.1:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 7 | NM_001129833.2:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 7 | NP_001123305.1:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 19 | NM_001129844.2:c.965A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 19 | NP_001123316.1:p.Gln322Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 10 | NM_001129836.2:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 10 | NP_001123308.1:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 6 | NM_001129832.2:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 6 | NP_001123304.1:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 9 | NM_001129835.2:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 9 | NP_001123307.1:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 17 | NM_001129843.2:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 17 | NP_001123315.1:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 23 | NM_001167625.2:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 23 | NP_001161097.1:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 22 | NM_001167624.3:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 22 | NP_001161096.2:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 15 | NM_001129841.2:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 15 | NP_001123313.1:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 20 | NM_001129846.2:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 20 | NP_001123318.1:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 8 | NM_001129834.2:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 8 | NP_001123306.1:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 1 | NM_199460.4:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 1 | NP_955630.3:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 16 | NM_001129842.2:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 16 | NP_001123314.1:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 12 | NM_001129838.2:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 12 | NP_001123310.1:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant 3 | NM_001129829.2:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 3 | NP_001123301.1:p.Gln325Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X1 | XM_017019926.3:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X1 | XP_016875415.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X2 | XM_017019927.3:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X2 | XP_016875416.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X3 | XM_047429513.1:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X3 | XP_047285469.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X4 | XM_017019928.3:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X4 | XP_016875417.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X5 | XM_017019929.3:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X5 | XP_016875418.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X6 | XM_017019930.3:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X6 | XP_016875419.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X7 | XM_047429514.1:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X7 | XP_047285470.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X8 | XM_047429515.1:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X8 | XP_047285471.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X9 | XM_017019931.3:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X9 | XP_016875420.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X10 | XM_047429516.1:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X10 | XP_047285472.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X11 | XM_017019932.3:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X11 | XP_016875421.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X12 | XM_047429517.1:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X12 | XP_047285473.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X13 | XM_047429518.1:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X13 | XP_047285474.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X14 | XM_017019933.3:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X14 | XP_016875422.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X15 | XM_017019935.3:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X15 | XP_016875424.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X16 | XM_017019934.3:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X16 | XP_016875423.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X17 | XM_047429519.1:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X17 | XP_047285475.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X18 | XM_017019939.3:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X18 | XP_016875428.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X19 | XM_017019943.3:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X19 | XP_016875432.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X20 | XM_017019946.3:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X20 | XP_016875435.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X21 | XM_017019944.3:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X21 | XP_016875433.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X22 | XM_017019945.3:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X22 | XP_016875434.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X23 | XM_017019947.3:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X23 | XP_016875436.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X24 | XM_017019948.3:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X24 | XP_016875437.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X25 | XM_017019949.3:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X25 | XP_016875438.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X26 | XM_017019950.3:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X26 | XP_016875439.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X27 | XM_047429520.1:c.170A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X27 | XP_047285476.1:p.Gln57Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X28 | XM_011521020.3:c.1064A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X28 | XP_011519322.1:p.Gln355Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X29 | XM_017019953.2:c.1064A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X29 | XP_016875442.1:p.Gln355Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X30 | XM_006719017.3:c.1064A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X30 | XP_006719080.1:p.Gln355Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X31 | XM_017019954.2:c.1064A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X31 | XP_016875443.1:p.Gln355Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X32 | XM_017019955.3:c.1142A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X32 | XP_016875444.1:p.Gln381Arg | Q (Gln) > R (Arg) | Missense Variant |
| CACNA1C transcript variant X33 | XM_011521023.4:c.974A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X33 | XP_011519325.1:p.Gln325Arg | Q (Gln) > R (Arg) | Missense 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 | A= | G |
|---|---|---|
| GRCh38.p14 chr 12 | NC_000012.12:g.2493247= | NC_000012.12:g.2493247A>G |
| GRCh37.p13 chr 12 | NC_000012.11:g.2602413= | NC_000012.11:g.2602413A>G |
| CACNA1C RefSeqGene (LRG_334) | NG_008801.2:g.527462= | NG_008801.2:g.527462A>G |
| CACNA1C transcript variant 18 | NM_000719.7:c.974= | NM_000719.7:c.974A>G |
| CACNA1C transcript variant 18 | NM_000719.6:c.974= | NM_000719.6:c.974A>G |
| CACNA1C transcript variant 1 | NM_199460.4:c.974= | NM_199460.4:c.974A>G |
| CACNA1C transcript variant 1 | NM_199460.3:c.974= | NM_199460.3:c.974A>G |
| CACNA1C transcript variant 1 | NM_199460.2:c.974= | NM_199460.2:c.974A>G |
| CACNA1C transcript variant 22 | NM_001167624.3:c.974= | NM_001167624.3:c.974A>G |
| CACNA1C transcript variant 22 | NM_001167624.2:c.974= | NM_001167624.2:c.974A>G |
| CACNA1C transcript variant 22 | NM_001167624.1:c.974= | NM_001167624.1:c.974A>G |
| CACNA1C transcript variant 4 | NM_001129830.3:c.974= | NM_001129830.3:c.974A>G |
| CACNA1C transcript variant 4 | NM_001129830.2:c.974= | NM_001129830.2:c.974A>G |
| CACNA1C transcript variant 4 | NM_001129830.1:c.974= | NM_001129830.1:c.974A>G |
| CACNA1C transcript variant 23 | NM_001167625.2:c.974= | NM_001167625.2:c.974A>G |
| CACNA1C transcript variant 23 | NM_001167625.1:c.974= | NM_001167625.1:c.974A>G |
| CACNA1C transcript variant 2 | NM_001129827.2:c.974= | NM_001129827.2:c.974A>G |
| CACNA1C transcript variant 2 | NM_001129827.1:c.974= | NM_001129827.1:c.974A>G |
| CACNA1C transcript variant 3 | NM_001129829.2:c.974= | NM_001129829.2:c.974A>G |
| CACNA1C transcript variant 3 | NM_001129829.1:c.974= | NM_001129829.1:c.974A>G |
| CACNA1C transcript variant 5 | NM_001129831.2:c.974= | NM_001129831.2:c.974A>G |
| CACNA1C transcript variant 5 | NM_001129831.1:c.974= | NM_001129831.1:c.974A>G |
| CACNA1C transcript variant 6 | NM_001129832.2:c.974= | NM_001129832.2:c.974A>G |
| CACNA1C transcript variant 6 | NM_001129832.1:c.974= | NM_001129832.1:c.974A>G |
| CACNA1C transcript variant 9 | NM_001129835.2:c.974= | NM_001129835.2:c.974A>G |
| CACNA1C transcript variant 9 | NM_001129835.1:c.974= | NM_001129835.1:c.974A>G |
| CACNA1C transcript variant 8 | NM_001129834.2:c.974= | NM_001129834.2:c.974A>G |
| CACNA1C transcript variant 8 | NM_001129834.1:c.974= | NM_001129834.1:c.974A>G |
| CACNA1C transcript variant 7 | NM_001129833.2:c.974= | NM_001129833.2:c.974A>G |
| CACNA1C transcript variant 7 | NM_001129833.1:c.974= | NM_001129833.1:c.974A>G |
| CACNA1C transcript variant 10 | NM_001129836.2:c.974= | NM_001129836.2:c.974A>G |
| CACNA1C transcript variant 10 | NM_001129836.1:c.974= | NM_001129836.1:c.974A>G |
| CACNA1C transcript variant 12 | NM_001129838.2:c.974= | NM_001129838.2:c.974A>G |
| CACNA1C transcript variant 12 | NM_001129838.1:c.974= | NM_001129838.1:c.974A>G |
| CACNA1C transcript variant 11 | NM_001129837.2:c.974= | NM_001129837.2:c.974A>G |
| CACNA1C transcript variant 11 | NM_001129837.1:c.974= | NM_001129837.1:c.974A>G |
| CACNA1C transcript variant 13 | NM_001129839.2:c.974= | NM_001129839.2:c.974A>G |
| CACNA1C transcript variant 13 | NM_001129839.1:c.974= | NM_001129839.1:c.974A>G |
| CACNA1C transcript variant 21 | NM_001167623.2:c.974= | NM_001167623.2:c.974A>G |
| CACNA1C transcript variant 21 | NM_001167623.1:c.974= | NM_001167623.1:c.974A>G |
| CACNA1C transcript variant 17 | NM_001129843.2:c.974= | NM_001129843.2:c.974A>G |
| CACNA1C transcript variant 17 | NM_001129843.1:c.974= | NM_001129843.1:c.974A>G |
| CACNA1C transcript variant 16 | NM_001129842.2:c.974= | NM_001129842.2:c.974A>G |
| CACNA1C transcript variant 16 | NM_001129842.1:c.974= | NM_001129842.1:c.974A>G |
| CACNA1C transcript variant 15 | NM_001129841.2:c.974= | NM_001129841.2:c.974A>G |
| CACNA1C transcript variant 15 | NM_001129841.1:c.974= | NM_001129841.1:c.974A>G |
| CACNA1C transcript variant 14 | NM_001129840.2:c.974= | NM_001129840.2:c.974A>G |
| CACNA1C transcript variant 14 | NM_001129840.1:c.974= | NM_001129840.1:c.974A>G |
| CACNA1C transcript variant 19 | NM_001129844.2:c.965= | NM_001129844.2:c.965A>G |
| CACNA1C transcript variant 19 | NM_001129844.1:c.965= | NM_001129844.1:c.965A>G |
| CACNA1C transcript variant 20 | NM_001129846.2:c.974= | NM_001129846.2:c.974A>G |
| CACNA1C transcript variant 20 | NM_001129846.1:c.974= | NM_001129846.1:c.974A>G |
| GRCh38.p14 chr 12 fix patch HG1815_PATCH | NW_018654718.1:g.841363= | NW_018654718.1:g.841363A>G |
| CACNA1C transcript variant X33 | XM_011521023.4:c.974= | XM_011521023.4:c.974A>G |
| CACNA1C transcript variant X33 | XM_011521023.3:c.974= | XM_011521023.3:c.974A>G |
| CACNA1C transcript variant X33 | XM_011521023.2:c.974= | XM_011521023.2:c.974A>G |
| CACNA1C transcript variant X8 | XM_011521023.1:c.974= | XM_011521023.1:c.974A>G |
| CACNA1C transcript variant X1 | XM_017019926.3:c.1142= | XM_017019926.3:c.1142A>G |
| CACNA1C transcript variant X1 | XM_017019926.2:c.1142= | XM_017019926.2:c.1142A>G |
| CACNA1C transcript variant X1 | XM_017019926.1:c.1142= | XM_017019926.1:c.1142A>G |
| CACNA1C transcript variant X2 | XM_017019927.3:c.1142= | XM_017019927.3:c.1142A>G |
| CACNA1C transcript variant X2 | XM_017019927.2:c.1142= | XM_017019927.2:c.1142A>G |
| CACNA1C transcript variant X2 | XM_017019927.1:c.1142= | XM_017019927.1:c.1142A>G |
| CACNA1C transcript variant X4 | XM_017019928.3:c.1142= | XM_017019928.3:c.1142A>G |
| CACNA1C transcript variant X3 | XM_017019928.2:c.1142= | XM_017019928.2:c.1142A>G |
| CACNA1C transcript variant X3 | XM_017019928.1:c.1142= | XM_017019928.1:c.1142A>G |
| CACNA1C transcript variant X6 | XM_017019930.3:c.1142= | XM_017019930.3:c.1142A>G |
| CACNA1C transcript variant X5 | XM_017019930.2:c.1142= | XM_017019930.2:c.1142A>G |
| CACNA1C transcript variant X5 | XM_017019930.1:c.1142= | XM_017019930.1:c.1142A>G |
| CACNA1C transcript variant X5 | XM_017019929.3:c.1142= | XM_017019929.3:c.1142A>G |
| CACNA1C transcript variant X4 | XM_017019929.2:c.1142= | XM_017019929.2:c.1142A>G |
| CACNA1C transcript variant X4 | XM_017019929.1:c.1142= | XM_017019929.1:c.1142A>G |
| CACNA1C transcript variant X9 | XM_017019931.3:c.1142= | XM_017019931.3:c.1142A>G |
| CACNA1C transcript variant X6 | XM_017019931.2:c.1142= | XM_017019931.2:c.1142A>G |
| CACNA1C transcript variant X6 | XM_017019931.1:c.1142= | XM_017019931.1:c.1142A>G |
| CACNA1C transcript variant X11 | XM_017019932.3:c.1142= | XM_017019932.3:c.1142A>G |
| CACNA1C transcript variant X7 | XM_017019932.2:c.1142= | XM_017019932.2:c.1142A>G |
| CACNA1C transcript variant X7 | XM_017019932.1:c.1142= | XM_017019932.1:c.1142A>G |
| CACNA1C transcript variant X14 | XM_017019933.3:c.1142= | XM_017019933.3:c.1142A>G |
| CACNA1C transcript variant X8 | XM_017019933.2:c.1142= | XM_017019933.2:c.1142A>G |
| CACNA1C transcript variant X8 | XM_017019933.1:c.1142= | XM_017019933.1:c.1142A>G |
| CACNA1C transcript variant X32 | XM_017019955.3:c.1142= | XM_017019955.3:c.1142A>G |
| CACNA1C transcript variant X32 | XM_017019955.2:c.1142= | XM_017019955.2:c.1142A>G |
| CACNA1C transcript variant X32 | XM_017019955.1:c.1142= | XM_017019955.1:c.1142A>G |
| CACNA1C transcript variant X15 | XM_017019935.3:c.1142= | XM_017019935.3:c.1142A>G |
| CACNA1C transcript variant X10 | XM_017019935.2:c.1142= | XM_017019935.2:c.1142A>G |
| CACNA1C transcript variant X10 | XM_017019935.1:c.1142= | XM_017019935.1:c.1142A>G |
| CACNA1C transcript variant X16 | XM_017019934.3:c.1142= | XM_017019934.3:c.1142A>G |
| CACNA1C transcript variant X9 | XM_017019934.2:c.1142= | XM_017019934.2:c.1142A>G |
| CACNA1C transcript variant X9 | XM_017019934.1:c.1142= | XM_017019934.1:c.1142A>G |
| CACNA1C transcript variant X18 | XM_017019939.3:c.1142= | XM_017019939.3:c.1142A>G |
| CACNA1C transcript variant X14 | XM_017019939.2:c.1142= | XM_017019939.2:c.1142A>G |
| CACNA1C transcript variant X14 | XM_017019939.1:c.1142= | XM_017019939.1:c.1142A>G |
| CACNA1C transcript variant X25 | XM_017019949.3:c.1142= | XM_017019949.3:c.1142A>G |
| CACNA1C transcript variant X24 | XM_017019949.2:c.1142= | XM_017019949.2:c.1142A>G |
| CACNA1C transcript variant X24 | XM_017019949.1:c.1142= | XM_017019949.1:c.1142A>G |
| CACNA1C transcript variant X24 | XM_017019948.3:c.1142= | XM_017019948.3:c.1142A>G |
| CACNA1C transcript variant X23 | XM_017019948.2:c.1142= | XM_017019948.2:c.1142A>G |
| CACNA1C transcript variant X23 | XM_017019948.1:c.1142= | XM_017019948.1:c.1142A>G |
| CACNA1C transcript variant X23 | XM_017019947.3:c.1142= | XM_017019947.3:c.1142A>G |
| CACNA1C transcript variant X22 | XM_017019947.2:c.1142= | XM_017019947.2:c.1142A>G |
| CACNA1C transcript variant X22 | XM_017019947.1:c.1142= | XM_017019947.1:c.1142A>G |
| CACNA1C transcript variant X22 | XM_017019945.3:c.1142= | XM_017019945.3:c.1142A>G |
| CACNA1C transcript variant X20 | XM_017019945.2:c.1142= | XM_017019945.2:c.1142A>G |
| CACNA1C transcript variant X20 | XM_017019945.1:c.1142= | XM_017019945.1:c.1142A>G |
| CACNA1C transcript variant X21 | XM_017019944.3:c.1142= | XM_017019944.3:c.1142A>G |
| CACNA1C transcript variant X19 | XM_017019944.2:c.1142= | XM_017019944.2:c.1142A>G |
| CACNA1C transcript variant X19 | XM_017019944.1:c.1142= | XM_017019944.1:c.1142A>G |
| CACNA1C transcript variant X19 | XM_017019943.3:c.1142= | XM_017019943.3:c.1142A>G |
| CACNA1C transcript variant X18 | XM_017019943.2:c.1142= | XM_017019943.2:c.1142A>G |
| CACNA1C transcript variant X18 | XM_017019943.1:c.1142= | XM_017019943.1:c.1142A>G |
| CACNA1C transcript variant X28 | XM_011521020.3:c.1064= | XM_011521020.3:c.1064A>G |
| CACNA1C transcript variant X28 | XM_011521020.2:c.1064= | XM_011521020.2:c.1064A>G |
| CACNA1C transcript variant X4 | XM_011521020.1:c.1064= | XM_011521020.1:c.1064A>G |
| CACNA1C transcript variant X31 | XM_017019954.2:c.1064= | XM_017019954.2:c.1064A>G |
| CACNA1C transcript variant X31 | XM_017019954.1:c.1064= | XM_017019954.1:c.1064A>G |
| CACNA1C transcript variant X29 | XM_017019953.2:c.1064= | XM_017019953.2:c.1064A>G |
| CACNA1C transcript variant X29 | XM_017019953.1:c.1064= | XM_017019953.1:c.1064A>G |
| CACNA1C transcript variant X20 | XM_017019946.3:c.1142= | XM_017019946.3:c.1142A>G |
| CACNA1C transcript variant X21 | XM_017019946.2:c.1142= | XM_017019946.2:c.1142A>G |
| CACNA1C transcript variant X21 | XM_017019946.1:c.1142= | XM_017019946.1:c.1142A>G |
| CACNA1C transcript variant X26 | XM_017019950.3:c.1142= | XM_017019950.3:c.1142A>G |
| CACNA1C transcript variant X25 | XM_017019950.2:c.1142= | XM_017019950.2:c.1142A>G |
| CACNA1C transcript variant X25 | XM_017019950.1:c.1142= | XM_017019950.1:c.1142A>G |
| CACNA1C transcript variant X30 | XM_006719017.3:c.1064= | XM_006719017.3:c.1064A>G |
| CACNA1C transcript variant X30 | XM_006719017.2:c.1064= | XM_006719017.2:c.1064A>G |
| CACNA1C transcript variant X5 | XM_006719017.1:c.1064= | XM_006719017.1:c.1064A>G |
| CACNA1C transcript variant X10 | XM_047429516.1:c.1142= | XM_047429516.1:c.1142A>G |
| CACNA1C transcript variant X8 | XM_047429515.1:c.1142= | XM_047429515.1:c.1142A>G |
| CACNA1C transcript variant X13 | XM_047429518.1:c.1142= | XM_047429518.1:c.1142A>G |
| CACNA1C transcript variant X12 | XM_047429517.1:c.1142= | XM_047429517.1:c.1142A>G |
| CACNA1C transcript variant X17 | XM_047429519.1:c.1142= | XM_047429519.1:c.1142A>G |
| CACNA1C transcript variant X7 | XM_047429514.1:c.1142= | XM_047429514.1:c.1142A>G |
| CACNA1C transcript variant X3 | XM_047429513.1:c.1142= | XM_047429513.1:c.1142A>G |
| CACNA1C transcript variant X27 | XM_047429520.1:c.170= | XM_047429520.1:c.170A>G |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 18 | NP_000710.5:p.Gln325= | NP_000710.5:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 1 | NP_955630.3:p.Gln325= | NP_955630.3:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 22 | NP_001161096.2:p.Gln325= | NP_001161096.2:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 4 | NP_001123302.2:p.Gln325= | NP_001123302.2:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 23 | NP_001161097.1:p.Gln325= | NP_001161097.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 2 | NP_001123299.1:p.Gln325= | NP_001123299.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 3 | NP_001123301.1:p.Gln325= | NP_001123301.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 5 | NP_001123303.1:p.Gln325= | NP_001123303.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 6 | NP_001123304.1:p.Gln325= | NP_001123304.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 9 | NP_001123307.1:p.Gln325= | NP_001123307.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 8 | NP_001123306.1:p.Gln325= | NP_001123306.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 7 | NP_001123305.1:p.Gln325= | NP_001123305.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 10 | NP_001123308.1:p.Gln325= | NP_001123308.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 12 | NP_001123310.1:p.Gln325= | NP_001123310.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 11 | NP_001123309.1:p.Gln325= | NP_001123309.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 13 | NP_001123311.1:p.Gln325= | NP_001123311.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 21 | NP_001161095.1:p.Gln325= | NP_001161095.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 17 | NP_001123315.1:p.Gln325= | NP_001123315.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 16 | NP_001123314.1:p.Gln325= | NP_001123314.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 15 | NP_001123313.1:p.Gln325= | NP_001123313.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 14 | NP_001123312.1:p.Gln325= | NP_001123312.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 19 | NP_001123316.1:p.Gln322= | NP_001123316.1:p.Gln322Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 20 | NP_001123318.1:p.Gln325= | NP_001123318.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X33 | XP_011519325.1:p.Gln325= | XP_011519325.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X1 | XP_016875415.1:p.Gln381= | XP_016875415.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X2 | XP_016875416.1:p.Gln381= | XP_016875416.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X4 | XP_016875417.1:p.Gln381= | XP_016875417.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X6 | XP_016875419.1:p.Gln381= | XP_016875419.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X5 | XP_016875418.1:p.Gln381= | XP_016875418.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X9 | XP_016875420.1:p.Gln381= | XP_016875420.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X11 | XP_016875421.1:p.Gln381= | XP_016875421.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X14 | XP_016875422.1:p.Gln381= | XP_016875422.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X32 | XP_016875444.1:p.Gln381= | XP_016875444.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X15 | XP_016875424.1:p.Gln381= | XP_016875424.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X16 | XP_016875423.1:p.Gln381= | XP_016875423.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X18 | XP_016875428.1:p.Gln381= | XP_016875428.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X25 | XP_016875438.1:p.Gln381= | XP_016875438.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X24 | XP_016875437.1:p.Gln381= | XP_016875437.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X23 | XP_016875436.1:p.Gln381= | XP_016875436.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X22 | XP_016875434.1:p.Gln381= | XP_016875434.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X21 | XP_016875433.1:p.Gln381= | XP_016875433.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X19 | XP_016875432.1:p.Gln381= | XP_016875432.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X28 | XP_011519322.1:p.Gln355= | XP_011519322.1:p.Gln355Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X31 | XP_016875443.1:p.Gln355= | XP_016875443.1:p.Gln355Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X29 | XP_016875442.1:p.Gln355= | XP_016875442.1:p.Gln355Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X20 | XP_016875435.1:p.Gln381= | XP_016875435.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X26 | XP_016875439.1:p.Gln381= | XP_016875439.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X30 | XP_006719080.1:p.Gln355= | XP_006719080.1:p.Gln355Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X10 | XP_047285472.1:p.Gln381= | XP_047285472.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X8 | XP_047285471.1:p.Gln381= | XP_047285471.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X13 | XP_047285474.1:p.Gln381= | XP_047285474.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X12 | XP_047285473.1:p.Gln381= | XP_047285473.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X17 | XP_047285475.1:p.Gln381= | XP_047285475.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X7 | XP_047285470.1:p.Gln381= | XP_047285470.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X3 | XP_047285469.1:p.Gln381= | XP_047285469.1:p.Gln381Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform X27 | XP_047285476.1:p.Gln57= | XP_047285476.1:p.Gln57Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 4 | NP_001123302.1:p.Gln325= | NP_001123302.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 22 | NP_001161096.1:p.Gln325= | NP_001161096.1:p.Gln325Arg |
| voltage-dependent L-type calcium channel subunit alpha-1C isoform 1 | NP_955630.2:p.Gln325= | NP_955630.2:p.Gln325Arg |
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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#.
2 SubSNP,
2 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2748788654 | Nov 08, 2017 (151) |
| 2 | GNOMAD | ss2906621245 | Nov 08, 2017 (151) |
| 3 | gnomAD - Genomes | NC_000012.12 - 2493247 | Apr 27, 2021 (155) |
| 4 | ALFA | NC_000012.12 - 2493247 | Apr 27, 2021 (155) |
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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).
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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.
No publications for rs1479610808
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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.
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.