Canonical Allele Identifier: CA383456267
Gene: KCNA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912582C>G , CM000674.2:g.4912582C>G GRCh38
NC_000012.11:g.5021748C>G , CM000674.1:g.5021748C>G GRCh37
NC_000012.10:g.4892009C>G NCBI36
NG_011815.1:g.7676C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1204C>G MANE Select ENSP00000371985.3:p.Leu402Val
ENST00000543874.3:n.105+2110C>G
ENST00000639306.1:c.1042C>G ENSP00000492506.1:p.Leu348Val
ENST00000639680.1:c.76+316C>G
ENST00000382545.3:c.1204C>G ENSP00000371985.3:p.Leu402Val
ENST00000541095.1:n.105+2110C>G
ENST00000543874.2:n.96+2110C>G
NM_000217.2:c.1204C>G NP_000208.2:p.Leu402Val
NM_000217.3:c.1204C>G MANE Select NP_000208.2:p.Leu402Val