Canonical Allele Identifier: CA078288

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 294786
• ClinVar RCV Id: RCV000397320 ; RCV000370884 ; RCV002059420
• dbSNP Id: rs201285556
• ExAC: 1:201081302 G / A
• gnomAD v2: 1-201081302-G-A
• gnomAD v3: 1-201112174-G-A
• gnomAD v4: 1-201112174-G-A
• MyVariant Identifiers: chr1:g.201081302G>A (hg19) ; chr1:g.201112174G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201112174G>A , CM000663.2:g.201112174G>A	GRCh38
NC_000001.10:g.201081302G>A , CM000663.1:g.201081302G>A	GRCh37
NC_000001.9:g.199347925G>A	NCBI36
NG_009816.1:g.5393C>T
NG_009816.2:g.5393C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.152+14C>T MANE Select	ENSP00000355192.3:n.152+14C>T
ENST00000679417.1:c.152+14C>T	ENSP00000506706.1:n.152+14C>T
ENST00000680059.1:c.152+14C>T	ENSP00000504944.1:n.152+14C>T
ENST00000681078.1:c.152+14C>T	ENSP00000506645.1:n.152+14C>T
ENST00000681190.1:c.152+14C>T	ENSP00000506428.1:n.152+14C>T
ENST00000681874.1:c.152+14C>T	ENSP00000505162.1:n.152+14C>T
ENST00000362061.3:c.152+14C>T	ENSP00000355192.3:n.152+14C>T
ENST00000367338.7:c.152+14C>T	ENSP00000356307.3:n.152+14C>T
NM_000069.2:c.152+14C>T	NP_000060.2:n.152+14C>T
XM_005245478.2:c.152+14C>T	XP_005245535.1:n.152+14C>T
XM_005245478.3:c.152+14C>T	XP_005245535.1:n.152+14C>T
NM_000069.3:c.152+14C>T MANE Select	NP_000060.2:n.152+14C>T