Canonical Allele Identifier: CA2013367944
Gene: KCNA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912662C= , CM000674.2:g.4912662C= GRCh38
NC_000012.11:g.5021828C= , CM000674.1:g.5021828C= GRCh37
NC_000012.10:g.4892089C= NCBI36
NG_011815.1:g.7756C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1284C= MANE Select ENSP00000371985.3:p.Leu428=
ENST00000543874.3:n.105+2190C=
ENST00000639306.1:c.1122C= ENSP00000492506.1:p.Leu374=
ENST00000639680.1:c.76+396C=
ENST00000382545.3:c.1284C= ENSP00000371985.3:p.Leu428=
ENST00000541095.1:n.105+2190C=
ENST00000543874.2:n.96+2190C=
NM_000217.2:c.1284C= NP_000208.2:p.Leu428=
NM_000217.3:c.1284C= MANE Select NP_000208.2:p.Leu428=