Canonical Allele Identifier: CA078688

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 402472
• ClinVar RCV Id: RCV004000600 ; RCV001218682 ; RCV000455181 ; RCV000782247
• dbSNP Id: rs745712829
• ExAC: 1:201044622 C / T
• gnomAD v2: 1-201044622-C-T
• gnomAD v4: 1-201075494-C-T
• MyVariant Identifiers: chr1:g.201044622C>T (hg19) ; chr1:g.201075494C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075494C>T , CM000663.2:g.201075494C>T	GRCh38
NC_000001.10:g.201044622C>T , CM000663.1:g.201044622C>T	GRCh37
NC_000001.9:g.199311245C>T	NCBI36
NG_009816.1:g.42073G>A
NG_009816.2:g.42073G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1948+1G>A MANE Select	ENSP00000355192.3:n.1948+1G>A
ENST00000679417.1:c.*1111+1G>A	ENSP00000506706.1:n.*1111+1G>A
ENST00000680059.1:c.1948+1G>A	ENSP00000504944.1:n.1948+1G>A
ENST00000681078.1:c.1948+1G>A	ENSP00000506645.1:n.1948+1G>A
ENST00000681190.1:c.1948+1G>A	ENSP00000506428.1:n.1948+1G>A
ENST00000681874.1:c.1948+1G>A	ENSP00000505162.1:n.1948+1G>A
ENST00000362061.3:c.1948+1G>A	ENSP00000355192.3:n.1948+1G>A
ENST00000367338.7:c.1948+1G>A	ENSP00000356307.3:n.1948+1G>A
NM_000069.2:c.1948+1G>A	NP_000060.2:n.1948+1G>A
XM_005245478.2:c.1948+1G>A	XP_005245535.1:n.1948+1G>A
XM_005245478.3:c.1948+1G>A	XP_005245535.1:n.1948+1G>A
NM_000069.3:c.1948+1G>A MANE Select	NP_000060.2:n.1948+1G>A