Canonical Allele Identifier: CA478094308
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2196713
ClinVar RCV Id: RCV002651150
dbSNP Id: rs1318357690
gnomAD v2: 12-5021138-C-T
gnomAD v4: 12-4911972-C-T
MyVariant Identifiers: chr12:g.5021138C>T (hg19) chr12:g.4911972C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911972C>T , CM000674.2:g.4911972C>T GRCh38
NC_000012.11:g.5021138C>T , CM000674.1:g.5021138C>T GRCh37
NC_000012.10:g.4891399C>T NCBI36
NG_011815.1:g.7066C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.594C>T MANE Select ENSP00000371985.3:p.Phe198=
ENST00000543874.3:n.105+1500C>T
ENST00000639306.1:c.432C>T ENSP00000492506.1:p.Phe144=
ENST00000382545.3:c.594C>T ENSP00000371985.3:p.Phe198=
ENST00000541095.1:n.105+1500C>T
ENST00000543874.2:n.96+1500C>T
NM_000217.2:c.594C>T NP_000208.2:p.Phe198=
NM_000217.3:c.594C>T MANE Select NP_000208.2:p.Phe198=
Search 100 bp 5'
Search 100 bp 3'