Canonical Allele Identifier: CA383244128

Gene: KCNJ1

Linked Data

• MyVariant Identifiers: chr11:g.128709412A>T (hg19) ; chr11:g.128839517A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839517A>T , CM000673.2:g.128839517A>T	GRCh38
NC_000011.9:g.128709412A>T , CM000673.1:g.128709412A>T	GRCh37
NC_000011.8:g.128214622A>T	NCBI36
NG_009379.1:g.32857T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.727T>A MANE Select	ENSP00000376434.1:p.Phe243Ile
ENST00000324036.7:c.727T>A	ENSP00000316233.3:p.Phe243Ile
ENST00000392664.2:c.784T>A	ENSP00000376432.2:p.Phe262Ile
ENST00000392665.6:c.727T>A	ENSP00000376433.2:p.Phe243Ile
ENST00000392666.5:c.727T>A	ENSP00000376434.1:p.Phe243Ile
ENST00000440599.6:c.727T>A	ENSP00000406320.2:p.Phe243Ile
NM_000220.4:c.784T>A	NP_000211.1:p.Phe262Ile
NM_153764.2:c.727T>A	NP_722448.1:p.Phe243Ile
NM_153765.2:c.778T>A	NP_722449.3:p.Phe260Ile
NM_153766.2:c.727T>A	NP_722450.1:p.Phe243Ile
NM_153767.3:c.727T>A	NP_722451.1:p.Phe243Ile
NM_000220.6:c.784T>A	NP_000211.1:p.Phe262Ile
NM_153764.3:c.727T>A	NP_722448.1:p.Phe243Ile
NM_153765.3:c.778T>A	NP_722449.3:p.Phe260Ile
NM_153766.3:c.727T>A MANE Select	NP_722450.1:p.Phe243Ile
NM_153767.4:c.727T>A	NP_722451.1:p.Phe243Ile