Canonical Allele Identifier: CA231855574
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs971885728
gnomAD v2: 12-5020946-G-A
gnomAD v3: 12-4911780-G-A
gnomAD v4: 12-4911780-G-A
MyVariant Identifiers: chr12:g.5020946G>A (hg19) chr12:g.4911780G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911780G>A , CM000674.2:g.4911780G>A GRCh38
NC_000012.11:g.5020946G>A , CM000674.1:g.5020946G>A GRCh37
NC_000012.10:g.4891207G>A NCBI36
NG_011815.1:g.6874G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.402G>A MANE Select ENSP00000371985.3:p.Glu134=
ENST00000543874.3:n.105+1308G>A
ENST00000639306.1:c.240G>A ENSP00000492506.1:p.Glu80=
ENST00000382545.3:c.402G>A ENSP00000371985.3:p.Glu134=
ENST00000541095.1:n.105+1308G>A
ENST00000543874.2:n.96+1308G>A
NM_000217.2:c.402G>A NP_000208.2:p.Glu134=
NM_000217.3:c.402G>A MANE Select NP_000208.2:p.Glu134=
Search 100 bp 5'
Search 100 bp 3'