Canonical Allele Identifier: CA383244296

Gene: KCNJ1

Linked Data

• gnomAD v4: 11-128839547-C-T
• MyVariant Identifiers: chr11:g.128709442C>T (hg19) ; chr11:g.128839547C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839547C>T , CM000673.2:g.128839547C>T	GRCh38
NC_000011.9:g.128709442C>T , CM000673.1:g.128709442C>T	GRCh37
NC_000011.8:g.128214652C>T	NCBI36
NG_009379.1:g.32827G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000392666.6:c.697G>A MANE Select	ENSP00000376434.1:p.Val233Ile
ENST00000324036.7:c.697G>A	ENSP00000316233.3:p.Val233Ile
ENST00000392664.2:c.754G>A	ENSP00000376432.2:p.Val252Ile
ENST00000392665.6:c.697G>A	ENSP00000376433.2:p.Val233Ile
ENST00000392666.5:c.697G>A	ENSP00000376434.1:p.Val233Ile
ENST00000440599.6:c.697G>A	ENSP00000406320.2:p.Val233Ile
NM_000220.4:c.754G>A	NP_000211.1:p.Val252Ile
NM_153764.2:c.697G>A	NP_722448.1:p.Val233Ile
NM_153765.2:c.748G>A	NP_722449.3:p.Val250Ile
NM_153766.2:c.697G>A	NP_722450.1:p.Val233Ile
NM_153767.3:c.697G>A	NP_722451.1:p.Val233Ile
NM_000220.6:c.754G>A	NP_000211.1:p.Val252Ile
NM_153764.3:c.697G>A	NP_722448.1:p.Val233Ile
NM_153765.3:c.748G>A	NP_722449.3:p.Val250Ile
NM_153766.3:c.697G>A MANE Select	NP_722450.1:p.Val233Ile
NM_153767.4:c.697G>A	NP_722451.1:p.Val233Ile