Canonical Allele Identifier: CA123136
Gene: KCNA1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.4912102G>C
GRCh37 chr12:g.5021268G>C
Revel Score:
ENST00000382545 (MANE Select) 0.957
ENST00000228858 0.957
ClinVar RCV:
RCV000014433
RCV000441803
ClinVar Variation:
13489
dbSNP:
28933381
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912102G>C , CM000674.2:g.4912102G>C GRCh38
NC_000012.11:g.5021268G>C , CM000674.1:g.5021268G>C GRCh37
NC_000012.10:g.4891529G>C NCBI36
NG_011815.1:g.7196G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.724G>C MANE Select ENSP00000371985.3:p.Ala242Pro
ENST00000543874.3:n.105+1630G>C
ENST00000639306.1:c.562G>C ENSP00000492506.1:p.Ala188Pro
ENST00000382545.3:c.724G>C ENSP00000371985.3:p.Ala242Pro
ENST00000541095.1:n.105+1630G>C
ENST00000543874.2:n.96+1630G>C
NM_000217.2:c.724G>C NP_000208.2:p.Ala242Pro
NM_000217.3:c.724G>C MANE Select NP_000208.2:p.Ala242Pro
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