Canonical Allele Identifier: CA383456345
Gene: KCNA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912620C>A , CM000674.2:g.4912620C>A GRCh38
NC_000012.11:g.5021786C>A , CM000674.1:g.5021786C>A GRCh37
NC_000012.10:g.4892047C>A NCBI36
NG_011815.1:g.7714C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1242C>A MANE Select ENSP00000371985.3:p.Phe414Leu
ENST00000543874.3:n.105+2148C>A
ENST00000639306.1:c.1080C>A ENSP00000492506.1:p.Phe360Leu
ENST00000639680.1:c.76+354C>A
ENST00000382545.3:c.1242C>A ENSP00000371985.3:p.Phe414Leu
ENST00000541095.1:n.105+2148C>A
ENST00000543874.2:n.96+2148C>A
NM_000217.2:c.1242C>A NP_000208.2:p.Phe414Leu
NM_000217.3:c.1242C>A MANE Select NP_000208.2:p.Phe414Leu