Canonical Allele Identifier: CA383456430
Gene: KCNA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912656G>T , CM000674.2:g.4912656G>T GRCh38
NC_000012.11:g.5021822G>T , CM000674.1:g.5021822G>T GRCh37
NC_000012.10:g.4892083G>T NCBI36
NG_011815.1:g.7750G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1278G>T MANE Select ENSP00000371985.3:p.Gln426His
ENST00000543874.3:n.105+2184G>T
ENST00000639306.1:c.1116G>T ENSP00000492506.1:p.Gln372His
ENST00000639680.1:c.76+390G>T
ENST00000382545.3:c.1278G>T ENSP00000371985.3:p.Gln426His
ENST00000541095.1:n.105+2184G>T
ENST00000543874.2:n.96+2184G>T
NM_000217.2:c.1278G>T NP_000208.2:p.Gln426His
NM_000217.3:c.1278G>T MANE Select NP_000208.2:p.Gln426His