Canonical Allele Identifier: CA078680

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 254805
• ClinVar RCV Id: RCV000245857 ; RCV000263528 ; RCV000532827 ; RCV002479955
• dbSNP Id: rs201173419
• ExAC: 1:201044613 G / C
• gnomAD v2: 1-201044613-G-C
• gnomAD v3: 1-201075485-G-C
• gnomAD v4: 1-201075485-G-C
• MyVariant Identifiers: chr1:g.201044613G>C (hg19) ; chr1:g.201075485G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075485G>C , CM000663.2:g.201075485G>C	GRCh38
NC_000001.10:g.201044613G>C , CM000663.1:g.201044613G>C	GRCh37
NC_000001.9:g.199311236G>C	NCBI36
NG_009816.1:g.42082C>G
NG_009816.2:g.42082C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000362061.4:c.1948+10C>G MANE Select	ENSP00000355192.3:n.1948+10C>G
ENST00000679417.1:c.*1111+10C>G	ENSP00000506706.1:n.*1111+10C>G
ENST00000680059.1:c.1948+10C>G	ENSP00000504944.1:n.1948+10C>G
ENST00000681078.1:c.1948+10C>G	ENSP00000506645.1:n.1948+10C>G
ENST00000681190.1:c.1948+10C>G	ENSP00000506428.1:n.1948+10C>G
ENST00000681874.1:c.1948+10C>G	ENSP00000505162.1:n.1948+10C>G
ENST00000362061.3:c.1948+10C>G	ENSP00000355192.3:n.1948+10C>G
ENST00000367338.7:c.1948+10C>G	ENSP00000356307.3:n.1948+10C>G
NM_000069.2:c.1948+10C>G	NP_000060.2:n.1948+10C>G
XM_005245478.2:c.1948+10C>G	XP_005245535.1:n.1948+10C>G
XM_005245478.3:c.1948+10C>G	XP_005245535.1:n.1948+10C>G
NM_000069.3:c.1948+10C>G MANE Select	NP_000060.2:n.1948+10C>G