Canonical Allele Identifier: CA123128
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 13472
ClinVar RCV Id: RCV000014414
dbSNP Id: rs121908593
gnomAD v2: 12-5155141-G-A
gnomAD v3: 12-5045975-G-A
gnomAD v4: 12-5045975-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045975G>A , CM000674.2:g.5045975G>A GRCh38
NC_000012.11:g.5155141G>A , CM000674.1:g.5155141G>A GRCh37
NC_000012.10:g.5025402G>A NCBI36
NG_012198.1:g.7057G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1828G>A MANE Select ENSP00000252321.3:p.Glu610Lys
ENST00000252321.4:c.1828G>A ENSP00000252321.3:p.Glu610Lys
NM_002234.3:c.1828G>A NP_002225.2:p.Glu610Lys
NM_002234.4:c.1828G>A MANE Select NP_002225.2:p.Glu610Lys