Canonical Allele Identifier: CA383456286
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447609
ClinVar RCV Id: RCV000516981 RCV001857907
dbSNP Id: rs1555085798
MyVariant Identifiers: chr12:g.5021758C>T (hg19) chr12:g.4912592C>T (hg38)
PubMed: PMID:27864847
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912592C>T , CM000674.2:g.4912592C>T GRCh38
NC_000012.11:g.5021758C>T , CM000674.1:g.5021758C>T GRCh37
NC_000012.10:g.4892019C>T NCBI36
NG_011815.1:g.7686C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1214C>T MANE Select ENSP00000371985.3:p.Pro405Leu
ENST00000543874.3:n.105+2120C>T
ENST00000639306.1:c.1052C>T ENSP00000492506.1:p.Pro351Leu
ENST00000639680.1:c.76+326C>T
ENST00000382545.3:c.1214C>T ENSP00000371985.3:p.Pro405Leu
ENST00000541095.1:n.105+2120C>T
ENST00000543874.2:n.96+2120C>T
NM_000217.2:c.1214C>T NP_000208.2:p.Pro405Leu
NM_000217.3:c.1214C>T MANE Select NP_000208.2:p.Pro405Leu
Search 100 bp 5'
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