Canonical Allele Identifier: CA6399482
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs751215384
ExAC: 12:5021824 T / A
gnomAD v2: 12-5021824-T-A
gnomAD v4: 12-4912658-T-A
MyVariant Identifiers: chr12:g.5021824T>A (hg19) chr12:g.4912658T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912658T>A , CM000674.2:g.4912658T>A GRCh38
NC_000012.11:g.5021824T>A , CM000674.1:g.5021824T>A GRCh37
NC_000012.10:g.4892085T>A NCBI36
NG_011815.1:g.7752T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1280T>A MANE Select ENSP00000371985.3:p.Leu427Ter
ENST00000543874.3:n.105+2186T>A
ENST00000639306.1:c.1118T>A ENSP00000492506.1:p.Leu373Ter
ENST00000639680.1:c.76+392T>A
ENST00000382545.3:c.1280T>A ENSP00000371985.3:p.Leu427Ter
ENST00000541095.1:n.105+2186T>A
ENST00000543874.2:n.96+2186T>A
NM_000217.2:c.1280T>A NP_000208.2:p.Leu427Ter
NM_000217.3:c.1280T>A MANE Select NP_000208.2:p.Leu427Ter
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