Canonical Allele Identifier: CA6399950
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 537308
dbSNP Id: rs201342234

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045937G>A , CM000674.2:g.5045937G>A GRCh38
NC_000012.11:g.5155103G>A , CM000674.1:g.5155103G>A GRCh37
NC_000012.10:g.5025364G>A NCBI36
NG_012198.1:g.7019G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1790G>A MANE Select ENSP00000252321.3:p.Arg597Gln
ENST00000252321.4:c.1790G>A ENSP00000252321.3:p.Arg597Gln
NM_002234.3:c.1790G>A NP_002225.2:p.Arg597Gln
NM_002234.4:c.1790G>A MANE Select NP_002225.2:p.Arg597Gln