Canonical Allele Identifier: CA204814
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208748
ClinVar RCV Id: RCV000190768 RCV001570793
dbSNP Id: rs797044929
COSMIC: COSM5375323
MyVariant Identifiers: chr12:g.5021746C>T (hg19) chr12:g.4912580C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912580C>T , CM000674.2:g.4912580C>T GRCh38
NC_000012.11:g.5021746C>T , CM000674.1:g.5021746C>T GRCh37
NC_000012.10:g.4892007C>T NCBI36
NG_011815.1:g.7674C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1202C>T MANE Select ENSP00000371985.3:p.Ala401Val
ENST00000543874.3:n.105+2108C>T
ENST00000639306.1:c.1040C>T ENSP00000492506.1:p.Ala347Val
ENST00000639680.1:c.76+314C>T
ENST00000382545.3:c.1202C>T ENSP00000371985.3:p.Ala401Val
ENST00000541095.1:n.105+2108C>T
ENST00000543874.2:n.96+2108C>T
NM_000217.2:c.1202C>T NP_000208.2:p.Ala401Val
NM_000217.3:c.1202C>T MANE Select NP_000208.2:p.Ala401Val
Search 100 bp 5'
Search 100 bp 3'