Canonical Allele Identifier: CA383454851
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs1947354636
gnomAD v3: 12-4911949-G-A
gnomAD v4: 12-4911949-G-A
MyVariant Identifiers: chr12:g.5021115G>A (hg19) chr12:g.4911949G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911949G>A , CM000674.2:g.4911949G>A GRCh38
NC_000012.11:g.5021115G>A , CM000674.1:g.5021115G>A GRCh37
NC_000012.10:g.4891376G>A NCBI36
NG_011815.1:g.7043G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.571G>A MANE Select ENSP00000371985.3:p.Glu191Lys
ENST00000543874.3:n.105+1477G>A
ENST00000639306.1:c.409G>A ENSP00000492506.1:p.Glu137Lys
ENST00000382545.3:c.571G>A ENSP00000371985.3:p.Glu191Lys
ENST00000541095.1:n.105+1477G>A
ENST00000543874.2:n.96+1477G>A
NM_000217.2:c.571G>A NP_000208.2:p.Glu191Lys
NM_000217.3:c.571G>A MANE Select NP_000208.2:p.Glu191Lys
Search 100 bp 5'
Search 100 bp 3'