Canonical Allele Identifier: CA120162
Gene: KCNJ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9161
ClinVar RCV Id: RCV000009731
dbSNP Id: rs104894250
MyVariant Identifiers: chr11:g.128709874C>G (hg19) chr11:g.128839979C>G (hg38)
PubMed: PMID:9002665 PMID:9015377
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839979C>G , CM000673.2:g.128839979C>G GRCh38
NC_000011.9:g.128709874C>G , CM000673.1:g.128709874C>G GRCh37
NC_000011.8:g.128215084C>G NCBI36
NG_009379.1:g.32395G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000392666.6:c.265G>C MANE Select ENSP00000376434.1:p.Asp89His
ENST00000324003.3:c.265G>C ENSP00000316136.3:p.Asp89His
ENST00000324036.7:c.265G>C ENSP00000316233.3:p.Asp89His
ENST00000392664.2:c.322G>C ENSP00000376432.2:p.Asp108His
ENST00000392665.6:c.265G>C ENSP00000376433.2:p.Asp89His
ENST00000392666.5:c.265G>C ENSP00000376434.1:p.Asp89His
ENST00000440599.6:c.265G>C ENSP00000406320.2:p.Asp89His
NM_000220.4:c.322G>C NP_000211.1:p.Asp108His
NM_153764.2:c.265G>C NP_722448.1:p.Asp89His
NM_153765.2:c.316G>C NP_722449.3:p.Asp106His
NM_153766.2:c.265G>C NP_722450.1:p.Asp89His
NM_153767.3:c.265G>C NP_722451.1:p.Asp89His
NM_000220.6:c.322G>C NP_000211.1:p.Asp108His
NM_153764.3:c.265G>C NP_722448.1:p.Asp89His
NM_153765.3:c.316G>C NP_722449.3:p.Asp106His
NM_153766.3:c.265G>C MANE Select NP_722450.1:p.Asp89His
NM_153767.4:c.265G>C NP_722451.1:p.Asp89His
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