Canonical Allele Identifier: CA344155995

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201054543-C-G
• MyVariant Identifiers: chr1:g.201023671C>G (hg19) ; chr1:g.201054543C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201054543C>G , CM000663.2:g.201054543C>G	GRCh38
NC_000001.10:g.201023671C>G , CM000663.1:g.201023671C>G	GRCh37
NC_000001.9:g.199290294C>G	NCBI36
NG_009816.1:g.63024G>C
NG_009816.2:g.63024G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3628G>C MANE Select	ENSP00000355192.3:p.Gly1210Arg
ENST00000679417.1:c.*2791G>C	ENSP00000506706.1:n.*2791G>C
ENST00000680051.1:n.754G>C
ENST00000680059.1:c.*1146G>C	ENSP00000504944.1:n.*1146G>C
ENST00000681078.1:c.3628G>C	ENSP00000506645.1:p.Gly1210Arg
ENST00000681190.1:c.3628G>C	ENSP00000506428.1:p.Gly1210Arg
ENST00000681874.1:c.3568G>C	ENSP00000505162.1:p.Gly1190Arg
ENST00000362061.3:c.3628G>C	ENSP00000355192.3:p.Gly1210Arg
ENST00000367338.7:c.3610-956G>C	ENSP00000356307.3:n.3610-956G>C
NM_000069.2:c.3628G>C	NP_000060.2:p.Gly1210Arg
XM_005245478.2:c.3610-956G>C	XP_005245535.1:n.3610-956G>C
XM_005245478.3:c.3610-956G>C	XP_005245535.1:n.3610-956G>C
NM_000069.3:c.3628G>C MANE Select	NP_000060.2:p.Gly1210Arg