Canonical Allele Identifier: CA383244304

Gene: KCNJ1

Linked Data

• dbSNP Id: rs1300210800
• gnomAD v3: 11-128839549-A-C
• gnomAD v4: 11-128839549-A-C
• MyVariant Identifiers: chr11:g.128709444A>C (hg19) ; chr11:g.128839549A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839549A>C , CM000673.2:g.128839549A>C	GRCh38
NC_000011.9:g.128709444A>C , CM000673.1:g.128709444A>C	GRCh37
NC_000011.8:g.128214654A>C	NCBI36
NG_009379.1:g.32825T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000392666.6:c.695T>G MANE Select	ENSP00000376434.1:p.Phe232Cys
ENST00000324036.7:c.695T>G	ENSP00000316233.3:p.Phe232Cys
ENST00000392664.2:c.752T>G	ENSP00000376432.2:p.Phe251Cys
ENST00000392665.6:c.695T>G	ENSP00000376433.2:p.Phe232Cys
ENST00000392666.5:c.695T>G	ENSP00000376434.1:p.Phe232Cys
ENST00000440599.6:c.695T>G	ENSP00000406320.2:p.Phe232Cys
NM_000220.4:c.752T>G	NP_000211.1:p.Phe251Cys
NM_153764.2:c.695T>G	NP_722448.1:p.Phe232Cys
NM_153765.2:c.746T>G	NP_722449.3:p.Phe249Cys
NM_153766.2:c.695T>G	NP_722450.1:p.Phe232Cys
NM_153767.3:c.695T>G	NP_722451.1:p.Phe232Cys
NM_000220.6:c.752T>G	NP_000211.1:p.Phe251Cys
NM_153764.3:c.695T>G	NP_722448.1:p.Phe232Cys
NM_153765.3:c.746T>G	NP_722449.3:p.Phe249Cys
NM_153766.3:c.695T>G MANE Select	NP_722450.1:p.Phe232Cys
NM_153767.4:c.695T>G	NP_722451.1:p.Phe232Cys