Canonical Allele Identifier: CA383456439
Gene: KCNA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5021827T>C (hg19) chr12:g.4912661T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912661T>C , CM000674.2:g.4912661T>C GRCh38
NC_000012.11:g.5021827T>C , CM000674.1:g.5021827T>C GRCh37
NC_000012.10:g.4892088T>C NCBI36
NG_011815.1:g.7755T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1283T>C MANE Select ENSP00000371985.3:p.Leu428Pro
ENST00000543874.3:n.105+2189T>C
ENST00000639306.1:c.1121T>C ENSP00000492506.1:p.Leu374Pro
ENST00000639680.1:c.76+395T>C
ENST00000382545.3:c.1283T>C ENSP00000371985.3:p.Leu428Pro
ENST00000541095.1:n.105+2189T>C
ENST00000543874.2:n.96+2189T>C
NM_000217.2:c.1283T>C NP_000208.2:p.Leu428Pro
NM_000217.3:c.1283T>C MANE Select NP_000208.2:p.Leu428Pro
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