Canonical Allele Identifier: CA383456255
Gene: KCNA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912576A>G , CM000674.2:g.4912576A>G GRCh38
NC_000012.11:g.5021742A>G , CM000674.1:g.5021742A>G GRCh37
NC_000012.10:g.4892003A>G NCBI36
NG_011815.1:g.7670A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1198A>G MANE Select ENSP00000371985.3:p.Ile400Val
ENST00000543874.3:n.105+2104A>G
ENST00000639306.1:c.1036A>G ENSP00000492506.1:p.Ile346Val
ENST00000639680.1:c.76+310A>G
ENST00000382545.3:c.1198A>G ENSP00000371985.3:p.Ile400Val
ENST00000541095.1:n.105+2104A>G
ENST00000543874.2:n.96+2104A>G
NM_000217.2:c.1198A>G NP_000208.2:p.Ile400Val
NM_000217.3:c.1198A>G MANE Select NP_000208.2:p.Ile400Val