Canonical Allele Identifier: CA120162

Gene: KCNJ1

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

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