Canonical Allele Identifier: CA216044
Gene: KCNJ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.128839982T>C
GRCh37 chr11:g.128709877T>C
Revel Score:
ENST00000392665 0.482
ENST00000392666 (MANE Select) 0.482
ENST00000440599 0.482
ENST00000324036 0.482
ENST00000392664 0.482
ENST00000324003 0.482
gnomAD v2:
11:128709877 T / C
gnomAD v3:
11:128839982 T / C
gnomAD v4:
chr11-128839982-T-C
Joint Max Group AF 0.00006145 (NFE)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.00006059 (NFE)
ClinVar RCV:
RCV000054579
RCV000356282
ClinVar Variation:
64392
dbSNP:
185212943
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839982T>C , CM000673.2:g.128839982T>C GRCh38
NC_000011.9:g.128709877T>C , CM000673.1:g.128709877T>C GRCh37
NC_000011.8:g.128215087T>C NCBI36
NG_009379.1:g.32392A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.262A>G MANE Select ENSP00000376434.1:p.Lys88Glu
ENST00000324003.3:c.262A>G ENSP00000316136.3:p.Lys88Glu
ENST00000324036.7:c.262A>G ENSP00000316233.3:p.Lys88Glu
ENST00000392664.2:c.319A>G ENSP00000376432.2:p.Lys107Glu
ENST00000392665.6:c.262A>G ENSP00000376433.2:p.Lys88Glu
ENST00000392666.5:c.262A>G ENSP00000376434.1:p.Lys88Glu
ENST00000440599.6:c.262A>G ENSP00000406320.2:p.Lys88Glu
NM_000220.4:c.319A>G NP_000211.1:p.Lys107Glu
NM_153764.2:c.262A>G NP_722448.1:p.Lys88Glu
NM_153765.2:c.313A>G NP_722449.3:p.Lys105Glu
NM_153766.2:c.262A>G NP_722450.1:p.Lys88Glu
NM_153767.3:c.262A>G NP_722451.1:p.Lys88Glu
NM_000220.6:c.319A>G NP_000211.1:p.Lys107Glu
NM_153764.3:c.262A>G NP_722448.1:p.Lys88Glu
NM_153765.3:c.313A>G NP_722449.3:p.Lys105Glu
NM_153766.3:c.262A>G MANE Select NP_722450.1:p.Lys88Glu
NM_153767.4:c.262A>G NP_722451.1:p.Lys88Glu
Search 100 bp 5'
Search 100 bp 3'