Canonical Allele Identifier: CA6357490
Gene: KCNJ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.128839660G>C
GRCh37 chr11:g.128709555G>C
Revel Score:
ENST00000392665 0.614
ENST00000392666 (MANE Select) 0.614
ENST00000440599 0.614
ENST00000324036 0.614
ENST00000392664 0.614
gnomAD v3:
11:128839660 G / C
gnomAD v4:
chr11-128839660-G-C
Joint Max Group AF 0.00000443 (AFR)
Genomes Max Group AF 0.000008 (AFR)
ClinVar RCV:
RCV001364225
ClinVar Variation:
1055539
dbSNP:
104894246
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839660G>C , CM000673.2:g.128839660G>C GRCh38
NC_000011.9:g.128709555G>C , CM000673.1:g.128709555G>C GRCh37
NC_000011.8:g.128214765G>C NCBI36
NG_009379.1:g.32714C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.584C>G MANE Select ENSP00000376434.1:p.Ala195Gly
ENST00000324036.7:c.584C>G ENSP00000316233.3:p.Ala195Gly
ENST00000392664.2:c.641C>G ENSP00000376432.2:p.Ala214Gly
ENST00000392665.6:c.584C>G ENSP00000376433.2:p.Ala195Gly
ENST00000392666.5:c.584C>G ENSP00000376434.1:p.Ala195Gly
ENST00000440599.6:c.584C>G ENSP00000406320.2:p.Ala195Gly
NM_000220.4:c.641C>G NP_000211.1:p.Ala214Gly
NM_153764.2:c.584C>G NP_722448.1:p.Ala195Gly
NM_153765.2:c.635C>G NP_722449.3:p.Ala212Gly
NM_153766.2:c.584C>G NP_722450.1:p.Ala195Gly
NM_153767.3:c.584C>G NP_722451.1:p.Ala195Gly
NM_000220.6:c.641C>G NP_000211.1:p.Ala214Gly
NM_153764.3:c.584C>G NP_722448.1:p.Ala195Gly
NM_153765.3:c.635C>G NP_722449.3:p.Ala212Gly
NM_153766.3:c.584C>G MANE Select NP_722450.1:p.Ala195Gly
NM_153767.4:c.584C>G NP_722451.1:p.Ala195Gly
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