Canonical Allele Identifier: CA383456246
Gene: KCNA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912571T>C , CM000674.2:g.4912571T>C GRCh38
NC_000012.11:g.5021737T>C , CM000674.1:g.5021737T>C GRCh37
NC_000012.10:g.4891998T>C NCBI36
NG_011815.1:g.7665T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1193T>C MANE Select ENSP00000371985.3:p.Leu398Pro
ENST00000543874.3:n.105+2099T>C
ENST00000639306.1:c.1031T>C ENSP00000492506.1:p.Leu344Pro
ENST00000639680.1:c.76+305T>C
ENST00000382545.3:c.1193T>C ENSP00000371985.3:p.Leu398Pro
ENST00000541095.1:n.105+2099T>C
ENST00000543874.2:n.96+2099T>C
NM_000217.2:c.1193T>C NP_000208.2:p.Leu398Pro
NM_000217.3:c.1193T>C MANE Select NP_000208.2:p.Leu398Pro