Canonical Allele Identifier: CA383243523

Gene: KCNJ1

Linked Data

• dbSNP Id: rs1943229491
• gnomAD v3: 11-128839385-C-T
• gnomAD v4: 11-128839385-C-T
• MyVariant Identifiers: chr11:g.128709280C>T (hg19) ; chr11:g.128839385C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839385C>T , CM000673.2:g.128839385C>T	GRCh38
NC_000011.9:g.128709280C>T , CM000673.1:g.128709280C>T	GRCh37
NC_000011.8:g.128214490C>T	NCBI36
NG_009379.1:g.32989G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.859G>A MANE Select	ENSP00000376434.1:p.Ala287Thr
ENST00000324036.7:c.859G>A	ENSP00000316233.3:p.Ala287Thr
ENST00000392664.2:c.916G>A	ENSP00000376432.2:p.Ala306Thr
ENST00000392665.6:c.859G>A	ENSP00000376433.2:p.Ala287Thr
ENST00000392666.5:c.859G>A	ENSP00000376434.1:p.Ala287Thr
ENST00000440599.6:c.859G>A	ENSP00000406320.2:p.Ala287Thr
NM_000220.4:c.916G>A	NP_000211.1:p.Ala306Thr
NM_153764.2:c.859G>A	NP_722448.1:p.Ala287Thr
NM_153765.2:c.910G>A	NP_722449.3:p.Ala304Thr
NM_153766.2:c.859G>A	NP_722450.1:p.Ala287Thr
NM_153767.3:c.859G>A	NP_722451.1:p.Ala287Thr
NM_000220.6:c.916G>A	NP_000211.1:p.Ala306Thr
NM_153764.3:c.859G>A	NP_722448.1:p.Ala287Thr
NM_153765.3:c.910G>A	NP_722449.3:p.Ala304Thr
NM_153766.3:c.859G>A MANE Select	NP_722450.1:p.Ala287Thr
NM_153767.4:c.859G>A	NP_722451.1:p.Ala287Thr