Canonical Allele Identifier: CA123138
Gene: KCNA1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.4912055C>A
GRCh37 chr12:g.5021221C>A
Revel Score:
ENST00000382545 (MANE Select) 0.980
ENST00000228858 0.980
ClinVar RCV:
RCV000014437
ClinVar Variation:
13493
dbSNP:
28933383
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912055C>A , CM000674.2:g.4912055C>A GRCh38
NC_000012.11:g.5021221C>A , CM000674.1:g.5021221C>A GRCh37
NC_000012.10:g.4891482C>A NCBI36
NG_011815.1:g.7149C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.677C>A MANE Select ENSP00000371985.3:p.Thr226Lys
ENST00000543874.3:n.105+1583C>A
ENST00000639306.1:c.515C>A ENSP00000492506.1:p.Thr172Lys
ENST00000382545.3:c.677C>A ENSP00000371985.3:p.Thr226Lys
ENST00000541095.1:n.105+1583C>A
ENST00000543874.2:n.96+1583C>A
NM_000217.2:c.677C>A NP_000208.2:p.Thr226Lys
NM_000217.3:c.677C>A MANE Select NP_000208.2:p.Thr226Lys
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