Canonical Allele Identifier: CA383245413

Gene: KCNJ1

Linked Data

• gnomAD v4: 11-128839856-C-A
• MyVariant Identifiers: chr11:g.128709751C>A (hg19) ; chr11:g.128839856C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839856C>A , CM000673.2:g.128839856C>A	GRCh38
NC_000011.9:g.128709751C>A , CM000673.1:g.128709751C>A	GRCh37
NC_000011.8:g.128214961C>A	NCBI36
NG_009379.1:g.32518G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.388G>T MANE Select	ENSP00000376434.1:p.Val130Leu
ENST00000324003.3:c.388G>T	ENSP00000316136.3:p.Val130Leu
ENST00000324036.7:c.388G>T	ENSP00000316233.3:p.Val130Leu
ENST00000392664.2:c.445G>T	ENSP00000376432.2:p.Val149Leu
ENST00000392665.6:c.388G>T	ENSP00000376433.2:p.Val130Leu
ENST00000392666.5:c.388G>T	ENSP00000376434.1:p.Val130Leu
ENST00000440599.6:c.388G>T	ENSP00000406320.2:p.Val130Leu
NM_000220.4:c.445G>T	NP_000211.1:p.Val149Leu
NM_153764.2:c.388G>T	NP_722448.1:p.Val130Leu
NM_153765.2:c.439G>T	NP_722449.3:p.Val147Leu
NM_153766.2:c.388G>T	NP_722450.1:p.Val130Leu
NM_153767.3:c.388G>T	NP_722451.1:p.Val130Leu
NM_000220.6:c.445G>T	NP_000211.1:p.Val149Leu
NM_153764.3:c.388G>T	NP_722448.1:p.Val130Leu
NM_153765.3:c.439G>T	NP_722449.3:p.Val147Leu
NM_153766.3:c.388G>T MANE Select	NP_722450.1:p.Val130Leu
NM_153767.4:c.388G>T	NP_722451.1:p.Val130Leu