Canonical Allele Identifier: CA383244690

Gene: KCNJ1

Linked Data

• MyVariant Identifiers: chr11:g.128709544T>C (hg19) ; chr11:g.128839649T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839649T>C , CM000673.2:g.128839649T>C	GRCh38
NC_000011.9:g.128709544T>C , CM000673.1:g.128709544T>C	GRCh37
NC_000011.8:g.128214754T>C	NCBI36
NG_009379.1:g.32725A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000392666.6:c.595A>G MANE Select	ENSP00000376434.1:p.Lys199Glu
ENST00000324036.7:c.595A>G	ENSP00000316233.3:p.Lys199Glu
ENST00000392664.2:c.652A>G	ENSP00000376432.2:p.Lys218Glu
ENST00000392665.6:c.595A>G	ENSP00000376433.2:p.Lys199Glu
ENST00000392666.5:c.595A>G	ENSP00000376434.1:p.Lys199Glu
ENST00000440599.6:c.595A>G	ENSP00000406320.2:p.Lys199Glu
NM_000220.4:c.652A>G	NP_000211.1:p.Lys218Glu
NM_153764.2:c.595A>G	NP_722448.1:p.Lys199Glu
NM_153765.2:c.646A>G	NP_722449.3:p.Lys216Glu
NM_153766.2:c.595A>G	NP_722450.1:p.Lys199Glu
NM_153767.3:c.595A>G	NP_722451.1:p.Lys199Glu
NM_000220.6:c.652A>G	NP_000211.1:p.Lys218Glu
NM_153764.3:c.595A>G	NP_722448.1:p.Lys199Glu
NM_153765.3:c.646A>G	NP_722449.3:p.Lys216Glu
NM_153766.3:c.595A>G MANE Select	NP_722450.1:p.Lys199Glu
NM_153767.4:c.595A>G	NP_722451.1:p.Lys199Glu