Canonical Allele Identifier: CA383244146

Gene: KCNJ1

Linked Data

• MyVariant Identifiers: chr11:g.128709415A>T (hg19) ; chr11:g.128839520A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839520A>T , CM000673.2:g.128839520A>T	GRCh38
NC_000011.9:g.128709415A>T , CM000673.1:g.128709415A>T	GRCh37
NC_000011.8:g.128214625A>T	NCBI36
NG_009379.1:g.32854T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.724T>A MANE Select	ENSP00000376434.1:p.Phe242Ile
ENST00000324036.7:c.724T>A	ENSP00000316233.3:p.Phe242Ile
ENST00000392664.2:c.781T>A	ENSP00000376432.2:p.Phe261Ile
ENST00000392665.6:c.724T>A	ENSP00000376433.2:p.Phe242Ile
ENST00000392666.5:c.724T>A	ENSP00000376434.1:p.Phe242Ile
ENST00000440599.6:c.724T>A	ENSP00000406320.2:p.Phe242Ile
NM_000220.4:c.781T>A	NP_000211.1:p.Phe261Ile
NM_153764.2:c.724T>A	NP_722448.1:p.Phe242Ile
NM_153765.2:c.775T>A	NP_722449.3:p.Phe259Ile
NM_153766.2:c.724T>A	NP_722450.1:p.Phe242Ile
NM_153767.3:c.724T>A	NP_722451.1:p.Phe242Ile
NM_000220.6:c.781T>A	NP_000211.1:p.Phe261Ile
NM_153764.3:c.724T>A	NP_722448.1:p.Phe242Ile
NM_153765.3:c.775T>A	NP_722449.3:p.Phe259Ile
NM_153766.3:c.724T>A MANE Select	NP_722450.1:p.Phe242Ile
NM_153767.4:c.724T>A	NP_722451.1:p.Phe242Ile