Canonical Allele Identifier: CA383454714
Gene: KCNA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911884T>A , CM000674.2:g.4911884T>A GRCh38
NC_000012.11:g.5021050T>A , CM000674.1:g.5021050T>A GRCh37
NC_000012.10:g.4891311T>A NCBI36
NG_011815.1:g.6978T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.506T>A MANE Select ENSP00000371985.3:p.Ile169Asn
ENST00000543874.3:n.105+1412T>A
ENST00000639306.1:c.344T>A ENSP00000492506.1:p.Ile115Asn
ENST00000382545.3:c.506T>A ENSP00000371985.3:p.Ile169Asn
ENST00000541095.1:n.105+1412T>A
ENST00000543874.2:n.96+1412T>A
NM_000217.2:c.506T>A NP_000208.2:p.Ile169Asn
NM_000217.3:c.506T>A MANE Select NP_000208.2:p.Ile169Asn