Canonical Allele Identifier: CA079268

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 254822
• ClinVar RCV Id: RCV000248838 ; RCV000298607 ; RCV000557416 ; RCV000711141 ; RCV003454739 ; RCV003454740 ; RCV003458372
• dbSNP Id: rs2297902
• ExAC: 1:201035071 G / A
• gnomAD v2: 1-201035071-G-A
• gnomAD v3: 1-201065943-G-A
• gnomAD v4: 1-201065943-G-A
• MyVariant Identifiers: chr1:g.201035071G>A (hg19) ; chr1:g.201065943G>A (hg38)
• PubMed: PMID:21845430

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201065943G>A , CM000663.2:g.201065943G>A	GRCh38
NC_000001.10:g.201035071G>A , CM000663.1:g.201035071G>A	GRCh37
NC_000001.9:g.199301694G>A	NCBI36
NG_009816.1:g.51624C>T
NG_009816.2:g.51624C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000362061.4:c.2748C>T MANE Select	ENSP00000355192.3:p.His916=
ENST00000679417.1:c.*1911C>T	ENSP00000506706.1:n.*1911C>T
ENST00000680059.1:c.*266C>T	ENSP00000504944.1:n.*266C>T
ENST00000681078.1:c.2748C>T	ENSP00000506645.1:p.His916=
ENST00000681190.1:c.2748C>T	ENSP00000506428.1:p.His916=
ENST00000681874.1:c.2688C>T	ENSP00000505162.1:p.His896=
ENST00000362061.3:c.2748C>T	ENSP00000355192.3:p.His916=
ENST00000367338.7:c.2748C>T	ENSP00000356307.3:p.His916=
NM_000069.2:c.2748C>T	NP_000060.2:p.His916=
XM_005245478.2:c.2748C>T	XP_005245535.1:p.His916=
XM_005245478.3:c.2748C>T	XP_005245535.1:p.His916=
NM_000069.3:c.2748C>T MANE Select	NP_000060.2:p.His916=