Canonical Allele Identifier: CA383246593

Gene: KCNJ1

Linked Data

• dbSNP Id: rs1482432016
• gnomAD v3: 11-128840012-G-T
• gnomAD v4: 11-128840012-G-T
• MyVariant Identifiers: chr11:g.128709907G>T (hg19) ; chr11:g.128840012G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128840012G>T , CM000673.2:g.128840012G>T	GRCh38
NC_000011.9:g.128709907G>T , CM000673.1:g.128709907G>T	GRCh37
NC_000011.8:g.128215117G>T	NCBI36
NG_009379.1:g.32362C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.232C>A MANE Select	ENSP00000376434.1:p.Leu78Ile
ENST00000324003.3:c.232C>A	ENSP00000316136.3:p.Leu78Ile
ENST00000324036.7:c.232C>A	ENSP00000316233.3:p.Leu78Ile
ENST00000392664.2:c.289C>A	ENSP00000376432.2:p.Leu97Ile
ENST00000392665.6:c.232C>A	ENSP00000376433.2:p.Leu78Ile
ENST00000392666.5:c.232C>A	ENSP00000376434.1:p.Leu78Ile
ENST00000440599.6:c.232C>A	ENSP00000406320.2:p.Leu78Ile
NM_000220.4:c.289C>A	NP_000211.1:p.Leu97Ile
NM_153764.2:c.232C>A	NP_722448.1:p.Leu78Ile
NM_153765.2:c.283C>A	NP_722449.3:p.Leu95Ile
NM_153766.2:c.232C>A	NP_722450.1:p.Leu78Ile
NM_153767.3:c.232C>A	NP_722451.1:p.Leu78Ile
NM_000220.6:c.289C>A	NP_000211.1:p.Leu97Ile
NM_153764.3:c.232C>A	NP_722448.1:p.Leu78Ile
NM_153765.3:c.283C>A	NP_722449.3:p.Leu95Ile
NM_153766.3:c.232C>A MANE Select	NP_722450.1:p.Leu78Ile
NM_153767.4:c.232C>A	NP_722451.1:p.Leu78Ile