Canonical Allele Identifier: CA383456273
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2910304
ClinVar RCV Id: RCV003627413
MyVariant Identifiers: chr12:g.5021751C>T (hg19) chr12:g.4912585C>T (hg38)
PubMed: PMID:27334371
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912585C>T , CM000674.2:g.4912585C>T GRCh38
NC_000012.11:g.5021751C>T , CM000674.1:g.5021751C>T GRCh37
NC_000012.10:g.4892012C>T NCBI36
NG_011815.1:g.7679C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1207C>T MANE Select ENSP00000371985.3:p.Pro403Ser
ENST00000543874.3:n.105+2113C>T
ENST00000639306.1:c.1045C>T ENSP00000492506.1:p.Pro349Ser
ENST00000639680.1:c.76+319C>T
ENST00000382545.3:c.1207C>T ENSP00000371985.3:p.Pro403Ser
ENST00000541095.1:n.105+2113C>T
ENST00000543874.2:n.96+2113C>T
NM_000217.2:c.1207C>T NP_000208.2:p.Pro403Ser
NM_000217.3:c.1207C>T MANE Select NP_000208.2:p.Pro403Ser
Search 100 bp 5'
Search 100 bp 3'