Canonical Allele Identifier: CA083441
Gene: CACNA1S HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.201047237C>G
GRCh37 chr1:g.201016365C>G
Revel Score:
ENST00000362061 (MANE Select) 0.487
ENST00000367338 0.487
gnomAD v2:
1:201016365 C / G
gnomAD v3:
1:201047237 C / G
gnomAD v4:
chr1-201047237-C-G
Joint Max Group AF 0.00071272 (SAS)
Genomes Max Group AF 0.00040767 (SAS)
Exomes Max Group AF 0.00070003 (SAS)
ClinVar Allele:
278363
ClinVar RCV:
RCV000380331
RCV000810862
RCV001356451
ClinVar Variation:
294715
dbSNP:
764330337
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201047237C>G , CM000663.2:g.201047237C>G GRCh38
NC_000001.10:g.201016365C>G , CM000663.1:g.201016365C>G GRCh37
NC_000001.9:g.199282988C>G NCBI36
NG_009816.1:g.70330G>C
NG_009816.2:g.70330G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.4546G>C MANE Select ENSP00000355192.3:p.Asp1516His
ENST00000679417.1:c.*3709G>C ENSP00000506706.1:n.*3709G>C
ENST00000680051.1:n.1672G>C
ENST00000680059.1:c.*2064G>C ENSP00000504944.1:n.*2064G>C
ENST00000681078.1:c.*321G>C ENSP00000506645.1:n.*321G>C
ENST00000681190.1:c.*728G>C ENSP00000506428.1:n.*728G>C
ENST00000681874.1:c.4486G>C ENSP00000505162.1:p.Asp1496His
ENST00000362061.3:c.4546G>C ENSP00000355192.3:p.Asp1516His
ENST00000367338.7:c.4489G>C ENSP00000356307.3:p.Asp1497His
NM_000069.2:c.4546G>C NP_000060.2:p.Asp1516His
XM_005245478.2:c.4489G>C XP_005245535.1:p.Asp1497His
XM_005245478.3:c.4489G>C XP_005245535.1:p.Asp1497His
NM_000069.3:c.4546G>C MANE Select NP_000060.2:p.Asp1516His
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