Canonical Allele Identifier: CA6357584
Gene: KCNJ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.128840209C>T
GRCh37 chr11:g.128710104C>T
Revel Score:
ENST00000392665 0.246
ENST00000392666 (MANE Select) 0.246
ENST00000440599 0.246
ENST00000324036 0.246
ENST00000392664 0.246
ENST00000324003 0.246
gnomAD v2:
11:128710104 C / T
gnomAD v3:
11:128840209 C / T
gnomAD v4:
chr11-128840209-C-T
Joint Max Group AF 0.00168804 (SAS)
Genomes Max Group AF 0.00159525 (SAS)
Exomes Max Group AF 0.0016417 (SAS)
ClinVar RCV:
RCV000355136
RCV000936543
ClinVar Variation:
303576
dbSNP:
566704910
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128840209C>T , CM000673.2:g.128840209C>T GRCh38
NC_000011.9:g.128710104C>T , CM000673.1:g.128710104C>T GRCh37
NC_000011.8:g.128215314C>T NCBI36
NG_009379.1:g.32165G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.35G>A MANE Select ENSP00000376434.1:p.Arg12His
ENST00000324003.3:c.35G>A ENSP00000316136.3:p.Arg12His
ENST00000324036.7:c.35G>A ENSP00000316233.3:p.Arg12His
ENST00000392664.2:c.92G>A ENSP00000376432.2:p.Arg31His
ENST00000392665.6:c.35G>A ENSP00000376433.2:p.Arg12His
ENST00000392666.5:c.35G>A ENSP00000376434.1:p.Arg12His
ENST00000440599.6:c.35G>A ENSP00000406320.2:p.Arg12His
ENST00000531562.1:n.380G>A
NM_000220.4:c.92G>A NP_000211.1:p.Arg31His
NM_153764.2:c.35G>A NP_722448.1:p.Arg12His
NM_153765.2:c.86G>A NP_722449.3:p.Arg29His
NM_153766.2:c.35G>A NP_722450.1:p.Arg12His
NM_153767.3:c.35G>A NP_722451.1:p.Arg12His
NM_000220.6:c.92G>A NP_000211.1:p.Arg31His
NM_153764.3:c.35G>A NP_722448.1:p.Arg12His
NM_153765.3:c.86G>A NP_722449.3:p.Arg29His
NM_153766.3:c.35G>A MANE Select NP_722450.1:p.Arg12His
NM_153767.4:c.35G>A NP_722451.1:p.Arg12His
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