Canonical Allele Identifier: CA6399414
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1006491
ClinVar RCV Id: RCV001303541
dbSNP Id: rs146948558
ExAC: 12:5021211 A / G
gnomAD v2: 12-5021211-A-G
gnomAD v3: 12-4912045-A-G
gnomAD v4: 12-4912045-A-G
MyVariant Identifiers: chr12:g.5021211A>G (hg19) chr12:g.4912045A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912045A>G , CM000674.2:g.4912045A>G GRCh38
NC_000012.11:g.5021211A>G , CM000674.1:g.5021211A>G GRCh37
NC_000012.10:g.4891472A>G NCBI36
NG_011815.1:g.7139A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.667A>G MANE Select ENSP00000371985.3:p.Ile223Val
ENST00000543874.3:n.105+1573A>G
ENST00000639306.1:c.505A>G ENSP00000492506.1:p.Ile169Val
ENST00000382545.3:c.667A>G ENSP00000371985.3:p.Ile223Val
ENST00000541095.1:n.105+1573A>G
ENST00000543874.2:n.96+1573A>G
NM_000217.2:c.667A>G NP_000208.2:p.Ile223Val
NM_000217.3:c.667A>G MANE Select NP_000208.2:p.Ile223Val
Search 100 bp 5'
Search 100 bp 3'