Canonical Allele Identifier: CA383455777
Gene: KCNA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5021530T>A (hg19) chr12:g.4912364T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912364T>A , CM000674.2:g.4912364T>A GRCh38
NC_000012.11:g.5021530T>A , CM000674.1:g.5021530T>A GRCh37
NC_000012.10:g.4891791T>A NCBI36
NG_011815.1:g.7458T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382545.5:c.986T>A MANE Select ENSP00000371985.3:p.Leu329His
ENST00000543874.3:n.105+1892T>A
ENST00000639306.1:c.824T>A ENSP00000492506.1:p.Leu275His
ENST00000639680.1:c.76+98T>A
ENST00000382545.3:c.986T>A ENSP00000371985.3:p.Leu329His
ENST00000541095.1:n.105+1892T>A
ENST00000543874.2:n.96+1892T>A
NM_000217.2:c.986T>A NP_000208.2:p.Leu329His
NM_000217.3:c.986T>A MANE Select NP_000208.2:p.Leu329His
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