Canonical Allele Identifier: CA2013367870
Gene: KCNA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912393C= , CM000674.2:g.4912393C= GRCh38
NC_000012.11:g.5021559C= , CM000674.1:g.5021559C= GRCh37
NC_000012.10:g.4891820C= NCBI36
NG_011815.1:g.7487C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1015C= MANE Select ENSP00000371985.3:p.Leu339=
ENST00000543874.3:n.105+1921C=
ENST00000639306.1:c.853C= ENSP00000492506.1:p.Leu285=
ENST00000639680.1:c.76+127C=
ENST00000382545.3:c.1015C= ENSP00000371985.3:p.Leu339=
ENST00000541095.1:n.105+1921C=
ENST00000543874.2:n.96+1921C=
NM_000217.2:c.1015C= NP_000208.2:p.Leu339=
NM_000217.3:c.1015C= MANE Select NP_000208.2:p.Leu339=