Canonical Allele Identifier: CA083562
Gene: CACNA1S HGNC NCBI

Linked Data

ClinVar Variation Id: 294714
ClinVar RCV Id: RCV000364529 RCV000651260 RCV003235183 RCV003326400 RCV003458397 RCV003456056 RCV003940100 RCV003454874
dbSNP Id: rs148273582
ExAC: 1:201013506 C / T
gnomAD v2: 1-201013506-C-T
gnomAD v3: 1-201044378-C-T
gnomAD v4: 1-201044378-C-T
MyVariant Identifiers: chr1:g.201013506C>T (hg19) chr1:g.201044378C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201044378C>T , CM000663.2:g.201044378C>T GRCh38
NC_000001.10:g.201013506C>T , CM000663.1:g.201013506C>T GRCh37
NC_000001.9:g.199280129C>T NCBI36
NG_009816.1:g.73189G>A
NG_009816.2:g.73189G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.4747G>A MANE Select ENSP00000355192.3:p.Glu1583Lys
ENST00000679417.1:c.*3910G>A ENSP00000506706.1:n.*3910G>A
ENST00000680051.1:n.1873G>A
ENST00000680059.1:c.*2265G>A ENSP00000504944.1:n.*2265G>A
ENST00000681078.1:c.*522G>A ENSP00000506645.1:n.*522G>A
ENST00000681190.1:c.*929G>A ENSP00000506428.1:n.*929G>A
ENST00000681874.1:c.4687G>A ENSP00000505162.1:p.Glu1563Lys
ENST00000362061.3:c.4747G>A ENSP00000355192.3:p.Glu1583Lys
ENST00000367338.7:c.4690G>A ENSP00000356307.3:p.Glu1564Lys
NM_000069.2:c.4747G>A NP_000060.2:p.Glu1583Lys
XM_005245478.2:c.4690G>A XP_005245535.1:p.Glu1564Lys
XM_005245478.3:c.4690G>A XP_005245535.1:p.Glu1564Lys
NM_000069.3:c.4747G>A MANE Select NP_000060.2:p.Glu1583Lys
Search 100 bp 5'
Search 100 bp 3'