Canonical Allele Identifier: CA383454804
Gene: KCNA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911926T>A , CM000674.2:g.4911926T>A GRCh38
NC_000012.11:g.5021092T>A , CM000674.1:g.5021092T>A GRCh37
NC_000012.10:g.4891353T>A NCBI36
NG_011815.1:g.7020T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.548T>A MANE Select ENSP00000371985.3:p.Ile183Asn
ENST00000543874.3:n.105+1454T>A
ENST00000639306.1:c.386T>A ENSP00000492506.1:p.Ile129Asn
ENST00000382545.3:c.548T>A ENSP00000371985.3:p.Ile183Asn
ENST00000541095.1:n.105+1454T>A
ENST00000543874.2:n.96+1454T>A
NM_000217.2:c.548T>A NP_000208.2:p.Ile183Asn
NM_000217.3:c.548T>A MANE Select NP_000208.2:p.Ile183Asn