Canonical Allele Identifier: CA6399677
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1096004
ClinVar RCV Id: RCV001417104
dbSNP Id: rs570396793
gnomAD v2: 12-5153937-G-A
gnomAD v3: 12-5044771-G-A
gnomAD v4: 12-5044771-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044771G>A , CM000674.2:g.5044771G>A GRCh38
NC_000012.11:g.5153937G>A , CM000674.1:g.5153937G>A GRCh37
NC_000012.10:g.5024198G>A NCBI36
NG_012198.1:g.5853G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.624G>A MANE Select ENSP00000252321.3:p.Glu208=
ENST00000252321.4:c.624G>A ENSP00000252321.3:p.Glu208=
NM_002234.3:c.624G>A NP_002225.2:p.Glu208=
NM_002234.4:c.624G>A MANE Select NP_002225.2:p.Glu208=