Canonical Allele Identifier: CA6357505

Gene: KCNJ1

Linked Data

• ClinVar Variation Id: 225398
• ClinVar RCV Id: RCV000490394 ; RCV000517253
• dbSNP Id: rs138120505
• ExAC: 11:128709634 G / A
• gnomAD v2: 11-128709634-G-A
• gnomAD v3: 11-128839739-G-A
• gnomAD v4: 11-128839739-G-A
• MyVariant Identifiers: chr11:g.128709634G>A (hg19) ; chr11:g.128839739G>A (hg38)
• PubMed: PMID:19096086

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839739G>A , CM000673.2:g.128839739G>A	GRCh38
NC_000011.9:g.128709634G>A , CM000673.1:g.128709634G>A	GRCh37
NC_000011.8:g.128214844G>A	NCBI36
NG_009379.1:g.32635C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000392666.6:c.505C>T MANE Select	ENSP00000376434.1:p.Arg169Cys
ENST00000324036.7:c.505C>T	ENSP00000316233.3:p.Arg169Cys
ENST00000392664.2:c.562C>T	ENSP00000376432.2:p.Arg188Cys
ENST00000392665.6:c.505C>T	ENSP00000376433.2:p.Arg169Cys
ENST00000392666.5:c.505C>T	ENSP00000376434.1:p.Arg169Cys
ENST00000440599.6:c.505C>T	ENSP00000406320.2:p.Arg169Cys
NM_000220.4:c.562C>T	NP_000211.1:p.Arg188Cys
NM_153764.2:c.505C>T	NP_722448.1:p.Arg169Cys
NM_153765.2:c.556C>T	NP_722449.3:p.Arg186Cys
NM_153766.2:c.505C>T	NP_722450.1:p.Arg169Cys
NM_153767.3:c.505C>T	NP_722451.1:p.Arg169Cys
NM_000220.6:c.562C>T	NP_000211.1:p.Arg188Cys
NM_153764.3:c.505C>T	NP_722448.1:p.Arg169Cys
NM_153765.3:c.556C>T	NP_722449.3:p.Arg186Cys
NM_153766.3:c.505C>T MANE Select	NP_722450.1:p.Arg169Cys
NM_153767.4:c.505C>T	NP_722451.1:p.Arg169Cys