Canonical Allele Identifier: CA478094970
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1111818
ClinVar RCV Id: RCV001438530
dbSNP Id: rs1475577782
gnomAD v4: 12-4912587-C-T
MyVariant Identifiers: chr12:g.5021753C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912587C>T , CM000674.2:g.4912587C>T GRCh38
NC_000012.11:g.5021753C>T , CM000674.1:g.5021753C>T GRCh37
NC_000012.10:g.4892014C>T NCBI36
NG_011815.1:g.7681C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1209C>T MANE Select ENSP00000371985.3:p.Pro403=
ENST00000543874.3:n.105+2115C>T
ENST00000639306.1:c.1047C>T ENSP00000492506.1:p.Pro349=
ENST00000639680.1:c.76+321C>T
ENST00000382545.3:c.1209C>T ENSP00000371985.3:p.Pro403=
ENST00000541095.1:n.105+2115C>T
ENST00000543874.2:n.96+2115C>T
NM_000217.2:c.1209C>T NP_000208.2:p.Pro403=
NM_000217.3:c.1209C>T MANE Select NP_000208.2:p.Pro403=
Search 100 bp 5'
Search 100 bp 3'