Canonical Allele Identifier: CA004048

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 17624
• ClinVar RCV Id: RCV000518061 ; RCV000693727 ; RCV003450646 ; RCV000019191
• dbSNP Id: rs28930069
• gnomAD v4: 1-201053539-G-C
• MyVariant Identifiers: chr1:g.201022667G>C (hg19) ; chr1:g.201053539G>C (hg38)
• PubMed: PMID:3037387 ; PMID:8004673 ; PMID:9132138 ; PMID:10523403 ; PMID:11353725 ; PMID:18162704 ; PMID:19118277 ; PMID:20301512

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201053539G>C , CM000663.2:g.201053539G>C	GRCh38
NC_000001.10:g.201022667G>C , CM000663.1:g.201022667G>C	GRCh37
NC_000001.9:g.199289290G>C	NCBI36
NG_009816.1:g.64028C>G
NG_009816.2:g.64028C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3715C>G MANE Select	ENSP00000355192.3:p.Arg1239Gly
ENST00000679417.1:c.*2878C>G	ENSP00000506706.1:n.*2878C>G
ENST00000680051.1:n.841C>G
ENST00000680059.1:c.*1233C>G	ENSP00000504944.1:n.*1233C>G
ENST00000681078.1:c.3715C>G	ENSP00000506645.1:p.Arg1239Gly
ENST00000681190.1:c.3715C>G	ENSP00000506428.1:p.Arg1239Gly
ENST00000681874.1:c.3655C>G	ENSP00000505162.1:p.Arg1219Gly
ENST00000362061.3:c.3715C>G	ENSP00000355192.3:p.Arg1239Gly
ENST00000367338.7:c.3658C>G	ENSP00000356307.3:p.Arg1220Gly
NM_000069.2:c.3715C>G	NP_000060.2:p.Arg1239Gly
XM_005245478.2:c.3658C>G	XP_005245535.1:p.Arg1220Gly
XM_005245478.3:c.3658C>G	XP_005245535.1:p.Arg1220Gly
NM_000069.3:c.3715C>G MANE Select	NP_000060.2:p.Arg1239Gly