Canonical Allele Identifier: CA383455021
Gene: KCNA1 HGNC NCBI

Linked Data

gnomAD v4: 12-4912024-A-C
MyVariant Identifiers: chr12:g.5021190A>C (hg19) chr12:g.4912024A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912024A>C , CM000674.2:g.4912024A>C GRCh38
NC_000012.11:g.5021190A>C , CM000674.1:g.5021190A>C GRCh37
NC_000012.10:g.4891451A>C NCBI36
NG_011815.1:g.7118A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.646A>C MANE Select ENSP00000371985.3:p.Ile216Leu
ENST00000543874.3:n.105+1552A>C
ENST00000639306.1:c.484A>C ENSP00000492506.1:p.Ile162Leu
ENST00000382545.3:c.646A>C ENSP00000371985.3:p.Ile216Leu
ENST00000541095.1:n.105+1552A>C
ENST00000543874.2:n.96+1552A>C
NM_000217.2:c.646A>C NP_000208.2:p.Ile216Leu
NM_000217.3:c.646A>C MANE Select NP_000208.2:p.Ile216Leu
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