Canonical Allele Identifier: CA477703128

Gene: KCNJ1

Linked Data

• COSMIC: COSM3979368
• MyVariant Identifiers: chr11:g.128709440T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839545T>C , CM000673.2:g.128839545T>C	GRCh38
NC_000011.9:g.128709440T>C , CM000673.1:g.128709440T>C	GRCh37
NC_000011.8:g.128214650T>C	NCBI36
NG_009379.1:g.32829A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000392666.6:c.699A>G MANE Select	ENSP00000376434.1:p.Val233=
ENST00000324036.7:c.699A>G	ENSP00000316233.3:p.Val233=
ENST00000392664.2:c.756A>G	ENSP00000376432.2:p.Val252=
ENST00000392665.6:c.699A>G	ENSP00000376433.2:p.Val233=
ENST00000392666.5:c.699A>G	ENSP00000376434.1:p.Val233=
ENST00000440599.6:c.699A>G	ENSP00000406320.2:p.Val233=
NM_000220.4:c.756A>G	NP_000211.1:p.Val252=
NM_153764.2:c.699A>G	NP_722448.1:p.Val233=
NM_153765.2:c.750A>G	NP_722449.3:p.Val250=
NM_153766.2:c.699A>G	NP_722450.1:p.Val233=
NM_153767.3:c.699A>G	NP_722451.1:p.Val233=
NM_000220.6:c.756A>G	NP_000211.1:p.Val252=
NM_153764.3:c.699A>G	NP_722448.1:p.Val233=
NM_153765.3:c.750A>G	NP_722449.3:p.Val250=
NM_153766.3:c.699A>G MANE Select	NP_722450.1:p.Val233=
NM_153767.4:c.699A>G	NP_722451.1:p.Val233=