Canonical Allele Identifier: CA383246952

Gene: KCNJ1

Linked Data

• gnomAD v4: 11-128840072-A-G
• MyVariant Identifiers: chr11:g.128709967A>G (hg19) ; chr11:g.128840072A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128840072A>G , CM000673.2:g.128840072A>G	GRCh38
NC_000011.9:g.128709967A>G , CM000673.1:g.128709967A>G	GRCh37
NC_000011.8:g.128215177A>G	NCBI36
NG_009379.1:g.32302T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.172T>C MANE Select	ENSP00000376434.1:p.Trp58Arg
ENST00000324003.3:c.172T>C	ENSP00000316136.3:p.Trp58Arg
ENST00000324036.7:c.172T>C	ENSP00000316233.3:p.Trp58Arg
ENST00000392664.2:c.229T>C	ENSP00000376432.2:p.Trp77Arg
ENST00000392665.6:c.172T>C	ENSP00000376433.2:p.Trp58Arg
ENST00000392666.5:c.172T>C	ENSP00000376434.1:p.Trp58Arg
ENST00000440599.6:c.172T>C	ENSP00000406320.2:p.Trp58Arg
ENST00000531562.1:n.517T>C
NM_000220.4:c.229T>C	NP_000211.1:p.Trp77Arg
NM_153764.2:c.172T>C	NP_722448.1:p.Trp58Arg
NM_153765.2:c.223T>C	NP_722449.3:p.Trp75Arg
NM_153766.2:c.172T>C	NP_722450.1:p.Trp58Arg
NM_153767.3:c.172T>C	NP_722451.1:p.Trp58Arg
NM_000220.6:c.229T>C	NP_000211.1:p.Trp77Arg
NM_153764.3:c.172T>C	NP_722448.1:p.Trp58Arg
NM_153765.3:c.223T>C	NP_722449.3:p.Trp75Arg
NM_153766.3:c.172T>C MANE Select	NP_722450.1:p.Trp58Arg
NM_153767.4:c.172T>C	NP_722451.1:p.Trp58Arg