Canonical Allele Identifier: CA004032

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 17630
• ClinVar RCV Id: RCV000019197 ; RCV000455686 ; RCV000822757
• dbSNP Id: rs80338779
• gnomAD v4: 1-201066283-C-A
• MyVariant Identifiers: chr1:g.201035411C>A (hg19) ; chr1:g.201066283C>A (hg38)
• PubMed: PMID:18835861 ; PMID:20301512

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201066283C>A , CM000663.2:g.201066283C>A	GRCh38
NC_000001.10:g.201035411C>A , CM000663.1:g.201035411C>A	GRCh37
NC_000001.9:g.199302034C>A	NCBI36
NG_009816.1:g.51284G>T
NG_009816.2:g.51284G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.2691G>T MANE Select	ENSP00000355192.3:p.Arg897Ser
ENST00000679417.1:c.*1854G>T	ENSP00000506706.1:n.*1854G>T
ENST00000680059.1:c.*209G>T	ENSP00000504944.1:n.*209G>T
ENST00000681078.1:c.2691G>T	ENSP00000506645.1:p.Arg897Ser
ENST00000681190.1:c.2691G>T	ENSP00000506428.1:p.Arg897Ser
ENST00000681874.1:c.2631G>T	ENSP00000505162.1:p.Arg877Ser
ENST00000362061.3:c.2691G>T	ENSP00000355192.3:p.Arg897Ser
ENST00000367338.7:c.2691G>T	ENSP00000356307.3:p.Arg897Ser
NM_000069.2:c.2691G>T	NP_000060.2:p.Arg897Ser
XM_005245478.2:c.2691G>T	XP_005245535.1:p.Arg897Ser
XM_005245478.3:c.2691G>T	XP_005245535.1:p.Arg897Ser
NM_000069.3:c.2691G>T MANE Select	NP_000060.2:p.Arg897Ser