Canonical Allele Identifier: CA477703263

Gene: KCNJ1

Linked Data

• dbSNP Id: rs1285711131
• COSMIC: COSM317499
• MyVariant Identifiers: chr11:g.128709548G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839653G>C , CM000673.2:g.128839653G>C	GRCh38
NC_000011.9:g.128709548G>C , CM000673.1:g.128709548G>C	GRCh37
NC_000011.8:g.128214758G>C	NCBI36
NG_009379.1:g.32721C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000392666.6:c.591C>G MANE Select	ENSP00000376434.1:p.Leu197=
ENST00000324036.7:c.591C>G	ENSP00000316233.3:p.Leu197=
ENST00000392664.2:c.648C>G	ENSP00000376432.2:p.Leu216=
ENST00000392665.6:c.591C>G	ENSP00000376433.2:p.Leu197=
ENST00000392666.5:c.591C>G	ENSP00000376434.1:p.Leu197=
ENST00000440599.6:c.591C>G	ENSP00000406320.2:p.Leu197=
NM_000220.4:c.648C>G	NP_000211.1:p.Leu216=
NM_153764.2:c.591C>G	NP_722448.1:p.Leu197=
NM_153765.2:c.642C>G	NP_722449.3:p.Leu214=
NM_153766.2:c.591C>G	NP_722450.1:p.Leu197=
NM_153767.3:c.591C>G	NP_722451.1:p.Leu197=
NM_000220.6:c.648C>G	NP_000211.1:p.Leu216=
NM_153764.3:c.591C>G	NP_722448.1:p.Leu197=
NM_153765.3:c.642C>G	NP_722449.3:p.Leu214=
NM_153766.3:c.591C>G MANE Select	NP_722450.1:p.Leu197=
NM_153767.4:c.591C>G	NP_722451.1:p.Leu197=