Canonical Allele Identifier: CA478094593
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2874349
ClinVar RCV Id: RCV003626420
dbSNP Id: rs1947359243
gnomAD v3: 12-4912653-T-C
gnomAD v4: 12-4912653-T-C
MyVariant Identifiers: chr12:g.5021819T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912653T>C , CM000674.2:g.4912653T>C GRCh38
NC_000012.11:g.5021819T>C , CM000674.1:g.5021819T>C GRCh37
NC_000012.10:g.4892080T>C NCBI36
NG_011815.1:g.7747T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1275T>C MANE Select ENSP00000371985.3:p.Ala425=
ENST00000543874.3:n.105+2181T>C
ENST00000639306.1:c.1113T>C ENSP00000492506.1:p.Ala371=
ENST00000639680.1:c.76+387T>C
ENST00000382545.3:c.1275T>C ENSP00000371985.3:p.Ala425=
ENST00000541095.1:n.105+2181T>C
ENST00000543874.2:n.96+2181T>C
NM_000217.2:c.1275T>C NP_000208.2:p.Ala425=
NM_000217.3:c.1275T>C MANE Select NP_000208.2:p.Ala425=
Search 100 bp 5'
Search 100 bp 3'