Canonical Allele Identifier: CA478094476
Gene: KCNA1 HGNC NCBI

Linked Data

gnomAD v4: 12-4911852-G-A
MyVariant Identifiers: chr12:g.5021018G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911852G>A , CM000674.2:g.4911852G>A GRCh38
NC_000012.11:g.5021018G>A , CM000674.1:g.5021018G>A GRCh37
NC_000012.10:g.4891279G>A NCBI36
NG_011815.1:g.6946G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.474G>A MANE Select ENSP00000371985.3:p.Glu158=
ENST00000543874.3:n.105+1380G>A
ENST00000639306.1:c.312G>A ENSP00000492506.1:p.Glu104=
ENST00000382545.3:c.474G>A ENSP00000371985.3:p.Glu158=
ENST00000541095.1:n.105+1380G>A
ENST00000543874.2:n.96+1380G>A
NM_000217.2:c.474G>A NP_000208.2:p.Glu158=
NM_000217.3:c.474G>A MANE Select NP_000208.2:p.Glu158=
Search 100 bp 5'
Search 100 bp 3'