Canonical Allele Identifier: CA383454799
Gene: KCNA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911925A>C , CM000674.2:g.4911925A>C GRCh38
NC_000012.11:g.5021091A>C , CM000674.1:g.5021091A>C GRCh37
NC_000012.10:g.4891352A>C NCBI36
NG_011815.1:g.7019A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.547A>C MANE Select ENSP00000371985.3:p.Ile183Leu
ENST00000543874.3:n.105+1453A>C
ENST00000639306.1:c.385A>C ENSP00000492506.1:p.Ile129Leu
ENST00000382545.3:c.547A>C ENSP00000371985.3:p.Ile183Leu
ENST00000541095.1:n.105+1453A>C
ENST00000543874.2:n.96+1453A>C
NM_000217.2:c.547A>C NP_000208.2:p.Ile183Leu
NM_000217.3:c.547A>C MANE Select NP_000208.2:p.Ile183Leu