Canonical Allele Identifier: CA383456349
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs2137674012
gnomAD v3: 12-4912621-T-G
gnomAD v4: 12-4912621-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912621T>G , CM000674.2:g.4912621T>G GRCh38
NC_000012.11:g.5021787T>G , CM000674.1:g.5021787T>G GRCh37
NC_000012.10:g.4892048T>G NCBI36
NG_011815.1:g.7715T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1243T>G MANE Select ENSP00000371985.3:p.Tyr415Asp
ENST00000543874.3:n.105+2149T>G
ENST00000639306.1:c.1081T>G ENSP00000492506.1:p.Tyr361Asp
ENST00000639680.1:c.76+355T>G
ENST00000382545.3:c.1243T>G ENSP00000371985.3:p.Tyr415Asp
ENST00000541095.1:n.105+2149T>G
ENST00000543874.2:n.96+2149T>G
NM_000217.2:c.1243T>G NP_000208.2:p.Tyr415Asp
NM_000217.3:c.1243T>G MANE Select NP_000208.2:p.Tyr415Asp