Canonical Allele Identifier: CA383454723
Gene: KCNA1 HGNC NCBI

Linked Data

gnomAD v4: 12-4911887-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911887C>T , CM000674.2:g.4911887C>T GRCh38
NC_000012.11:g.5021053C>T , CM000674.1:g.5021053C>T GRCh37
NC_000012.10:g.4891314C>T NCBI36
NG_011815.1:g.6981C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.509C>T MANE Select ENSP00000371985.3:p.Ala170Val
ENST00000543874.3:n.105+1415C>T
ENST00000639306.1:c.347C>T ENSP00000492506.1:p.Ala116Val
ENST00000382545.3:c.509C>T ENSP00000371985.3:p.Ala170Val
ENST00000541095.1:n.105+1415C>T
ENST00000543874.2:n.96+1415C>T
NM_000217.2:c.509C>T NP_000208.2:p.Ala170Val
NM_000217.3:c.509C>T MANE Select NP_000208.2:p.Ala170Val