Canonical Allele Identifier: CA383455619
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447614
ClinVar RCV Id: RCV000517456 RCV001775128
dbSNP Id: rs1555085761
MyVariant Identifiers: chr12:g.5021457C>T (hg19) chr12:g.4912291C>T (hg38)
PubMed: PMID:16511644
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912291C>T , CM000674.2:g.4912291C>T GRCh38
NC_000012.11:g.5021457C>T , CM000674.1:g.5021457C>T GRCh37
NC_000012.10:g.4891718C>T NCBI36
NG_011815.1:g.7385C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382545.5:c.913C>T MANE Select ENSP00000371985.3:p.Leu305Phe
ENST00000543874.3:n.105+1819C>T
ENST00000639306.1:c.751C>T ENSP00000492506.1:p.Leu251Phe
ENST00000639680.1:c.76+25C>T
ENST00000382545.3:c.913C>T ENSP00000371985.3:p.Leu305Phe
ENST00000541095.1:n.105+1819C>T
ENST00000543874.2:n.96+1819C>T
NM_000217.2:c.913C>T NP_000208.2:p.Leu305Phe
NM_000217.3:c.913C>T MANE Select NP_000208.2:p.Leu305Phe
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