Canonical Allele Identifier: CA383244677

Gene: KCNJ1

Linked Data

• ClinVar Variation Id: 1995667
• ClinVar RCV Id: RCV002796760
• gnomAD v4: 11-128839644-G-T
• MyVariant Identifiers: chr11:g.128709539G>T (hg19) ; chr11:g.128839644G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839644G>T , CM000673.2:g.128839644G>T	GRCh38
NC_000011.9:g.128709539G>T , CM000673.1:g.128709539G>T	GRCh37
NC_000011.8:g.128214749G>T	NCBI36
NG_009379.1:g.32730C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.600C>A MANE Select	ENSP00000376434.1:p.Ser200Arg
ENST00000324036.7:c.600C>A	ENSP00000316233.3:p.Ser200Arg
ENST00000392664.2:c.657C>A	ENSP00000376432.2:p.Ser219Arg
ENST00000392665.6:c.600C>A	ENSP00000376433.2:p.Ser200Arg
ENST00000392666.5:c.600C>A	ENSP00000376434.1:p.Ser200Arg
ENST00000440599.6:c.600C>A	ENSP00000406320.2:p.Ser200Arg
NM_000220.4:c.657C>A	NP_000211.1:p.Ser219Arg
NM_153764.2:c.600C>A	NP_722448.1:p.Ser200Arg
NM_153765.2:c.651C>A	NP_722449.3:p.Ser217Arg
NM_153766.2:c.600C>A	NP_722450.1:p.Ser200Arg
NM_153767.3:c.600C>A	NP_722451.1:p.Ser200Arg
NM_000220.6:c.657C>A	NP_000211.1:p.Ser219Arg
NM_153764.3:c.600C>A	NP_722448.1:p.Ser200Arg
NM_153765.3:c.651C>A	NP_722449.3:p.Ser217Arg
NM_153766.3:c.600C>A MANE Select	NP_722450.1:p.Ser200Arg
NM_153767.4:c.600C>A	NP_722451.1:p.Ser200Arg