Canonical Allele Identifier: CA1275018
Gene: CACNA1E HGNC NCBI

Linked Data

ClinVar Variation Id: 1650718
ClinVar RCV Id: RCV002163512
dbSNP Id: rs779874299

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.181651424C>A , CM000663.2:g.181651424C>A GRCh38
NC_000001.10:g.181620560C>A , CM000663.1:g.181620560C>A GRCh37
NC_000001.9:g.179887183C>A NCBI36
NG_050616.1:g.173114C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367570.6:c.1038C>A ENSP00000356542.1:p.Val346=
ENST00000700187.1:n.1020C>A
ENST00000367573.7:c.1038C>A MANE Select ENSP00000356545.2:p.Val346=
ENST00000524607.6:c.1473C>A ENSP00000432038.2:p.Val491=
ENST00000357570.9:c.1038C>A ENSP00000350183.6:p.Val346=
ENST00000358338.7:c.1038C>A ENSP00000351101.6:p.Val346=
ENST00000360108.7:c.1038C>A ENSP00000353222.3:p.Val346=
ENST00000367567.8:c.1038C>A ENSP00000356539.5:p.Val346=
ENST00000367570.5:c.1038C>A ENSP00000356542.1:p.Val346=
ENST00000367573.6:c.1038C>A ENSP00000356545.2:p.Val346=
ENST00000524607.5:c.1038C>A ENSP00000432038.1:p.Val346=
ENST00000533229.1:n.1472C>A
ENST00000621551.3:c.1038C>A ENSP00000483914.1:p.Val346=
ENST00000621791.4:c.1038C>A ENSP00000481619.1:p.Val346=
NM_000721.3:c.1038C>A NP_000712.2:p.Val346=
NM_001205293.1:c.1038C>A NP_001192222.1:p.Val346=
NM_001205294.1:c.1038C>A NP_001192223.1:p.Val346=
XM_011509971.1:c.1038C>A XP_011508273.1:p.Val346=
NM_001205293.2:c.1038C>A NP_001192222.1:p.Val346=
XM_017002243.1:c.1473C>A XP_016857732.1:p.Val491=
XM_017002244.1:c.1473C>A XP_016857733.1:p.Val491=
XM_017002245.1:c.1473C>A XP_016857734.1:p.Val491=
XM_017002246.1:c.1473C>A XP_016857735.1:p.Val491=
XM_017002247.1:c.1473C>A XP_016857736.1:p.Val491=
XM_017002248.1:c.1473C>A XP_016857737.1:p.Val491=
XM_017002249.1:c.1473C>A XP_016857738.1:p.Val491=
XM_017002250.1:c.1473C>A XP_016857739.1:p.Val491=
XM_017002251.1:c.1473C>A XP_016857740.1:p.Val491=
NM_001205293.3:c.1038C>A MANE Select NP_001192222.1:p.Val346=
NM_000721.4:c.1038C>A NP_000712.2:p.Val346=
NM_001205294.2:c.1038C>A NP_001192223.1:p.Val346=