Canonical Allele Identifier: CA6357461

Gene: KCNJ1

Linked Data

• ClinVar Variation Id: 2797668
• ClinVar RCV Id: RCV003673339
• dbSNP Id: rs145188293
• ExAC: 11:128709389 G / A
• gnomAD v2: 11-128709389-G-A
• gnomAD v3: 11-128839494-G-A
• gnomAD v4: 11-128839494-G-A
• MyVariant Identifiers: chr11:g.128709389G>A (hg19) ; chr11:g.128839494G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839494G>A , CM000673.2:g.128839494G>A	GRCh38
NC_000011.9:g.128709389G>A , CM000673.1:g.128709389G>A	GRCh37
NC_000011.8:g.128214599G>A	NCBI36
NG_009379.1:g.32880C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.750C>T MANE Select	ENSP00000376434.1:p.Tyr250=
ENST00000324036.7:c.750C>T	ENSP00000316233.3:p.Tyr250=
ENST00000392664.2:c.807C>T	ENSP00000376432.2:p.Tyr269=
ENST00000392665.6:c.750C>T	ENSP00000376433.2:p.Tyr250=
ENST00000392666.5:c.750C>T	ENSP00000376434.1:p.Tyr250=
ENST00000440599.6:c.750C>T	ENSP00000406320.2:p.Tyr250=
NM_000220.4:c.807C>T	NP_000211.1:p.Tyr269=
NM_153764.2:c.750C>T	NP_722448.1:p.Tyr250=
NM_153765.2:c.801C>T	NP_722449.3:p.Tyr267=
NM_153766.2:c.750C>T	NP_722450.1:p.Tyr250=
NM_153767.3:c.750C>T	NP_722451.1:p.Tyr250=
NM_000220.6:c.807C>T	NP_000211.1:p.Tyr269=
NM_153764.3:c.750C>T	NP_722448.1:p.Tyr250=
NM_153765.3:c.801C>T	NP_722449.3:p.Tyr267=
NM_153766.3:c.750C>T MANE Select	NP_722450.1:p.Tyr250=
NM_153767.4:c.750C>T	NP_722451.1:p.Tyr250=