Canonical Allele Identifier: CA254228

Gene: WNK4 COA3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42796244C>T , CM000679.2:g.42796244C>T	GRCh38
NC_000017.10:g.40948262C>T , CM000679.1:g.40948262C>T	GRCh37
NC_000017.9:g.38201788C>T	NCBI36
NG_016227.1:g.20614C>T
NG_046771.1:g.7482G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_032387.5:c.3553C>T (WNK4) MANE Select	NP_115763.2:p.Arg1185Cys
ENST00000246914.10:c.3553C>T (WNK4) MANE Select	ENSP00000246914.4:p.Arg1185Cys
NM_001321299.1:c.2545C>T (WNK4)	NP_001308228.1:p.Arg849Cys
NM_001321299.2:c.2545C>T (WNK4)	NP_001308228.1:p.Arg849Cys
NM_032387.4:c.3553C>T (WNK4)	NP_115763.2:p.Arg1185Cys
ENST00000246914.9:c.3553C>T (WNK4)	ENSP00000246914.4:p.Arg1185Cys
ENST00000586680.1:c.*143-91G>A (COA3)	ENSP00000467546.1:n.*143-91G>A
ENST00000591448.5:c.*2054C>T (WNK4)	ENSP00000467088.1:n.*2054C>T
XM_005257595.3:c.3553C>T (WNK4)	XP_005257652.1:p.Arg1185Cys
XM_005257596.2:c.3550C>T (WNK4)	XP_005257653.1:p.Arg1184Cys
XM_005257597.3:c.3553C>T (WNK4)	XP_005257654.1:p.Arg1185Cys
XM_006722020.2:c.3415C>T (WNK4)	XP_006722083.1:p.Arg1139Cys
XM_006722021.1:c.2545C>T (WNK4)	XP_006722084.1:p.Arg849Cys
XM_006722022.1:c.2545C>T (WNK4)	XP_006722085.1:p.Arg849Cys
XM_011525132.1:c.3550C>T (WNK4)	XP_011523434.1:p.Arg1184Cys
XM_011525133.1:c.3553C>T (WNK4)	XP_011523435.1:p.Arg1185Cys
XM_011525134.1:c.3412C>T (WNK4)	XP_011523436.1:p.Arg1138Cys
XM_011525135.1:c.3553C>T (WNK4)	XP_011523437.1:p.Arg1185Cys
XM_017024962.1:c.3553C>T (WNK4)	XP_016880451.1:p.Arg1185Cys
XM_017024966.1:c.2545C>T (WNK4)	XP_016880455.1:p.Arg849Cys