Canonical Allele Identifier: CA399672577

Gene: WNK4 COA3

Linked Data

• ClinVar Variation Id: 492932
• ClinVar RCV Id: RCV000584086
• dbSNP Id: rs756125712
• MyVariant Identifiers: chr17:g.40948526G>T (hg19) ; chr17:g.42796508G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42796508G>T , CM000679.2:g.42796508G>T	GRCh38
NC_000017.10:g.40948526G>T , CM000679.1:g.40948526G>T	GRCh37
NC_000017.9:g.38202052G>T	NCBI36
NG_016227.1:g.20878G>T
NG_046771.1:g.7218C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246914.10:c.3659G>T (WNK4) MANE Select	ENSP00000246914.4:p.Gly1220Val
ENST00000246914.9:c.3659G>T (WNK4)	ENSP00000246914.4:p.Gly1220Val
ENST00000586680.1:c.*142+113C>A (COA3)	ENSP00000467546.1:n.*142+113C>A
ENST00000591448.5:c.*2160G>T (WNK4)	ENSP00000467088.1:n.*2160G>T
NM_032387.4:c.3659G>T (WNK4)	NP_115763.2:p.Gly1220Val
XM_005257595.3:c.3687G>T (WNK4)	XP_005257652.1:p.Trp1229Cys
XM_005257596.2:c.3656G>T (WNK4)	XP_005257653.1:p.Gly1219Val
XM_005257597.3:c.3632-178G>T (WNK4)	XP_005257654.1:n.3632-178G>T
XM_006722020.2:c.3549G>T (WNK4)	XP_006722083.1:p.Trp1183Cys
XM_006722021.1:c.2679G>T (WNK4)	XP_006722084.1:p.Trp893Cys
XM_006722022.1:c.2651G>T (WNK4)	XP_006722085.1:p.Gly884Val
XM_011525132.1:c.3684G>T (WNK4)	XP_011523434.1:p.Trp1228Cys
XM_011525133.1:c.3687G>T (WNK4)	XP_011523435.1:p.Trp1229Cys
XM_011525134.1:c.3546G>T (WNK4)	XP_011523436.1:p.Trp1182Cys
XM_011525135.1:c.3659G>T (WNK4)	XP_011523437.1:p.Gly1220Val
NM_001321299.1:c.2651G>T (WNK4)	NP_001308228.1:p.Gly884Val
XM_017024962.1:c.3659G>T (WNK4)	XP_016880451.1:p.Gly1220Val
XM_017024966.1:c.2651G>T (WNK4)	XP_016880455.1:p.Gly884Val
NM_032387.5:c.3659G>T (WNK4) MANE Select	NP_115763.2:p.Gly1220Val
NM_001321299.2:c.2651G>T (WNK4)	NP_001308228.1:p.Gly884Val