Canonical Allele Identifier: CA383464845
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1509612
ClinVar RCV Id: RCV002018035
dbSNP Id: rs1862753562
COSMIC: COSM144472

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044788G>A , CM000674.2:g.5044788G>A GRCh38
NC_000012.11:g.5153954G>A , CM000674.1:g.5153954G>A GRCh37
NC_000012.10:g.5024215G>A NCBI36
NG_012198.1:g.5870G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.641G>A MANE Select ENSP00000252321.3:p.Arg214His
ENST00000252321.4:c.641G>A ENSP00000252321.3:p.Arg214His
NM_002234.3:c.641G>A NP_002225.2:p.Arg214His
NM_002234.4:c.641G>A MANE Select NP_002225.2:p.Arg214His