Canonical Allele Identifier: CA16142760
Gene: CACNA1D HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.53495113T>C
GRCh37 chr3:g.53529140T>C
gnomAD v2:
3:53529140 T / C
gnomAD v3:
3:53495113 T / C
gnomAD v4:
chr3-53495113-T-C
Joint Max Group AF 0.96518458 (EAS)
Genomes Max Group AF 0.94554494 (EAS)
Exomes Max Group AF 0.96528019 (EAS)
ClinVar Allele:
1182573
ClinVar RCV:
RCV001554659
RCV001554660
RCV001685524
ClinVar Variation:
1192642
dbSNP:
312480
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53495113T>C , CM000665.2:g.53495113T>C GRCh38
NC_000003.11:g.53529140T>C , CM000665.1:g.53529140T>C GRCh37
NC_000003.10:g.53504180T>C NCBI36
NG_032999.1:g.5065T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000481478.2:c.-54T>C ENSP00000418014.2:n.-54T>C
ENST00000636627.2:c.-54T>C ENSP00000490889.2:n.-54T>C
ENST00000288139.11:c.-54T>C MANE Plus Clinical ENSP00000288139.3:n.-54T>C
ENST00000350061.11:c.-54T>C MANE Select ENSP00000288133.5:n.-54T>C
ENST00000636938.1:c.-54T>C ENSP00000490039.1:n.-54T>C
ENST00000637424.1:c.140-2039T>C ENSP00000489769.1:n.140-2039T>C
ENST00000288139.8:c.-54T>C ENSP00000288139.3:n.-54T>C
ENST00000350061.9:c.-54T>C ENSP00000288133.5:n.-54T>C
NM_000720.3:c.-54T>C NP_000711.1:n.-54T>C
NM_001128839.2:c.-54T>C NP_001122311.1:n.-54T>C
NM_001128840.2:c.-54T>C NP_001122312.1:n.-54T>C
XM_005265448.2:c.-54T>C XP_005265505.1:n.-54T>C
XM_011534095.1:c.-54T>C XP_011532397.1:n.-54T>C
NM_001128840.3:c.-54T>C MANE Select NP_001122312.1:n.-54T>C
NM_000720.4:c.-54T>C MANE Plus Clinical NP_000711.1:n.-54T>C
NM_001128839.3:c.-54T>C NP_001122311.1:n.-54T>C
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