Canonical Allele Identifier: CA383456067
Gene: KCNA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912489A>C , CM000674.2:g.4912489A>C GRCh38
NC_000012.11:g.5021655A>C , CM000674.1:g.5021655A>C GRCh37
NC_000012.10:g.4891916A>C NCBI36
NG_011815.1:g.7583A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1111A>C MANE Select ENSP00000371985.3:p.Thr371Pro
ENST00000543874.3:n.105+2017A>C
ENST00000639306.1:c.949A>C ENSP00000492506.1:p.Thr317Pro
ENST00000639680.1:c.76+223A>C
ENST00000382545.3:c.1111A>C ENSP00000371985.3:p.Thr371Pro
ENST00000541095.1:n.105+2017A>C
ENST00000543874.2:n.96+2017A>C
NM_000217.2:c.1111A>C NP_000208.2:p.Thr371Pro
NM_000217.3:c.1111A>C MANE Select NP_000208.2:p.Thr371Pro