Canonical Allele Identifier: CA083114

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 390913
• ClinVar RCV Id: RCV000424693 ; RCV000651251 ; RCV001080896 ; RCV001101611 ; RCV003446051 ; RCV003446049 ; RCV003446050
• dbSNP Id: rs373675720
• ExAC: 1:201019652 A / G
• gnomAD v2: 1-201019652-A-G
• gnomAD v3: 1-201050524-A-G
• gnomAD v4: 1-201050524-A-G
• MyVariant Identifiers: chr1:g.201019652A>G (hg19) ; chr1:g.201050524A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201050524A>G , CM000663.2:g.201050524A>G	GRCh38
NC_000001.10:g.201019652A>G , CM000663.1:g.201019652A>G	GRCh37
NC_000001.9:g.199286275A>G	NCBI36
NG_009816.1:g.67043T>C
NG_009816.2:g.67043T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.4114-8T>C MANE Select	ENSP00000355192.3:n.4114-8T>C
ENST00000679417.1:c.*3277-8T>C	ENSP00000506706.1:n.*3277-8T>C
ENST00000680051.1:n.1240-8T>C
ENST00000680059.1:c.*1632-8T>C	ENSP00000504944.1:n.*1632-8T>C
ENST00000681078.1:c.4114-8T>C	ENSP00000506645.1:n.4114-8T>C
ENST00000681190.1:c.*296-8T>C	ENSP00000506428.1:n.*296-8T>C
ENST00000681874.1:c.4054-8T>C	ENSP00000505162.1:n.4054-8T>C
ENST00000362061.3:c.4114-8T>C	ENSP00000355192.3:n.4114-8T>C
ENST00000367338.7:c.4057-8T>C	ENSP00000356307.3:n.4057-8T>C
NM_000069.2:c.4114-8T>C	NP_000060.2:n.4114-8T>C
XM_005245478.2:c.4057-8T>C	XP_005245535.1:n.4057-8T>C
XM_005245478.3:c.4057-8T>C	XP_005245535.1:n.4057-8T>C
NM_000069.3:c.4114-8T>C MANE Select	NP_000060.2:n.4114-8T>C