Canonical Allele Identifier: CA344129663

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 3073855
• ClinVar RCV Id: RCV004016861
• gnomAD v4: 1-201040036-A-C
• MyVariant Identifiers: chr1:g.201009164A>C (hg19) ; chr1:g.201040036A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201040036A>C , CM000663.2:g.201040036A>C	GRCh38
NC_000001.10:g.201009164A>C , CM000663.1:g.201009164A>C	GRCh37
NC_000001.9:g.199275787A>C	NCBI36
NG_009816.1:g.77531T>G
NG_009816.2:g.77531T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.5417T>G MANE Select	ENSP00000355192.3:p.Phe1806Cys
ENST00000679417.1:c.*4580T>G	ENSP00000506706.1:n.*4580T>G
ENST00000680059.1:c.*2935T>G	ENSP00000504944.1:n.*2935T>G
ENST00000681078.1:c.*1192T>G	ENSP00000506645.1:n.*1192T>G
ENST00000681190.1:c.*1599T>G	ENSP00000506428.1:n.*1599T>G
ENST00000681874.1:c.5357T>G	ENSP00000505162.1:p.Phe1786Cys
ENST00000362061.3:c.5417T>G	ENSP00000355192.3:p.Phe1806Cys
ENST00000367338.7:c.5360T>G	ENSP00000356307.3:p.Phe1787Cys
NM_000069.2:c.5417T>G	NP_000060.2:p.Phe1806Cys
XM_005245478.2:c.5360T>G	XP_005245535.1:p.Phe1787Cys
XR_241170.3:n.1465-1819A>C
XR_922405.1:n.2003-1819A>C
XR_922406.1:n.2281-1819A>C
XR_922407.1:n.2191-1819A>C
XR_922408.1:n.1369-1819A>C
XR_922409.1:n.1984-1819A>C
XR_922410.1:n.1391-1819A>C
XR_922411.1:n.1983-1819A>C
XR_922412.1:n.2197-1819A>C
XR_922413.1:n.2093-1819A>C
XR_922414.1:n.1300-1819A>C
XR_922415.1:n.1869-1819A>C
XR_922416.1:n.1309-1819A>C
XR_922417.1:n.1887-1819A>C
XR_922418.1:n.1821-1819A>C
XR_922419.1:n.1215-1819A>C
XR_922420.1:n.1687-1819A>C
XM_005245478.3:c.5360T>G	XP_005245535.1:p.Phe1787Cys
XR_001738364.1:n.1652-1819A>C
XR_001738365.1:n.1562-1819A>C
XR_001738366.1:n.1355-1819A>C
XR_001738367.1:n.1568-1819A>C
XR_001738368.1:n.1464-1819A>C
XR_001738369.1:n.1240-1819A>C
XR_001738370.1:n.1192-1819A>C
XR_001738371.1:n.586-1819A>C
XR_001738372.1:n.1058-1819A>C
XR_922405.3:n.2113-1819A>C
XR_922407.3:n.2301-1819A>C
XR_922408.2:n.1374-1819A>C
XR_922410.2:n.1383-1819A>C
XR_922414.2:n.1292-1819A>C
XR_922416.2:n.1301-1819A>C
XR_922417.3:n.1997-1819A>C
NM_000069.3:c.5417T>G MANE Select	NP_000060.2:p.Phe1806Cys