Canonical Allele Identifier: CA626220175

Gene: WNK4

Linked Data

• dbSNP Id: rs1246151761
• gnomAD v2: 17-40939480-T-TC
• gnomAD v3: 17-42787462-T-TC
• gnomAD v4: 17-42787462-T-TC
• MyVariant Identifiers: chr17:g.40939480_40939481insC (hg19) ; chr17:g.42787462_42787463insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42787468dup , CM000679.2:g.42787468dup	GRCh38
NC_000017.10:g.40939486dup , CM000679.1:g.40939486dup	GRCh37
NC_000017.9:g.38193012dup	NCBI36
NG_016227.1:g.11838dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246914.10:c.1667dup MANE Select	ENSP00000246914.4:p.Glu557Ter
ENST00000246914.9:c.1667dup	ENSP00000246914.4:p.Glu557Ter
ENST00000587705.5:n.347dup
ENST00000591448.5:c.*168dup	ENSP00000467088.1:n.*168dup
ENST00000592072.1:n.347dup
NM_032387.4:c.1667dup	NP_115763.2:p.Glu557Ter
XM_005257595.3:c.1667dup	XP_005257652.1:p.Glu557Ter
XM_005257596.2:c.1667dup	XP_005257653.1:p.Glu557Ter
XM_005257597.3:c.1667dup	XP_005257654.1:p.Glu557Ter
XM_006722020.2:c.1667dup	XP_006722083.1:p.Glu557Ter
XM_006722021.1:c.659dup	XP_006722084.1:p.Glu221Ter
XM_006722022.1:c.659dup	XP_006722085.1:p.Glu221Ter
XM_011525132.1:c.1667dup	XP_011523434.1:p.Glu557Ter
XM_011525133.1:c.1667dup	XP_011523435.1:p.Glu557Ter
XM_011525134.1:c.1667dup	XP_011523436.1:p.Glu557Ter
XM_011525135.1:c.1667dup	XP_011523437.1:p.Glu557Ter
NM_001321299.1:c.659dup	NP_001308228.1:p.Glu221Ter
XM_017024962.1:c.1667dup	XP_016880451.1:p.Glu557Ter
XM_017024966.1:c.659dup	XP_016880455.1:p.Glu221Ter
NM_032387.5:c.1667dup MANE Select	NP_115763.2:p.Glu557Ter
NM_001321299.2:c.659dup	NP_001308228.1:p.Glu221Ter