Canonical Allele Identifier: CA478094288
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 795030
ClinVar RCV Id: RCV001414075
dbSNP Id: rs769242869
MyVariant Identifiers: chr12:g.5021114C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911948C>T , CM000674.2:g.4911948C>T GRCh38
NC_000012.11:g.5021114C>T , CM000674.1:g.5021114C>T GRCh37
NC_000012.10:g.4891375C>T NCBI36
NG_011815.1:g.7042C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.570C>T MANE Select ENSP00000371985.3:p.Pro190=
ENST00000543874.3:n.105+1476C>T
ENST00000639306.1:c.408C>T ENSP00000492506.1:p.Pro136=
ENST00000382545.3:c.570C>T ENSP00000371985.3:p.Pro190=
ENST00000541095.1:n.105+1476C>T
ENST00000543874.2:n.96+1476C>T
NM_000217.2:c.570C>T NP_000208.2:p.Pro190=
NM_000217.3:c.570C>T MANE Select NP_000208.2:p.Pro190=
Search 100 bp 5'
Search 100 bp 3'