Canonical Allele Identifier: CA383467283
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 3234440
ClinVar RCV Id: RCV004546293

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045964A>C , CM000674.2:g.5045964A>C GRCh38
NC_000012.11:g.5155130A>C , CM000674.1:g.5155130A>C GRCh37
NC_000012.10:g.5025391A>C NCBI36
NG_012198.1:g.7046A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1817A>C MANE Select ENSP00000252321.3:p.Asp606Ala
ENST00000252321.4:c.1817A>C ENSP00000252321.3:p.Asp606Ala
NM_002234.3:c.1817A>C NP_002225.2:p.Asp606Ala
NM_002234.4:c.1817A>C MANE Select NP_002225.2:p.Asp606Ala