Canonical Allele Identifier: CA083441

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 294715
• ClinVar RCV Id: RCV000380331 ; RCV000810862 ; RCV001356451
• dbSNP Id: rs764330337
• ExAC: 1:201016365 C / G
• gnomAD v2: 1-201016365-C-G
• gnomAD v3: 1-201047237-C-G
• gnomAD v4: 1-201047237-C-G
• MyVariant Identifiers: chr1:g.201016365C>G (hg19) ; chr1:g.201047237C>G (hg38)

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