Canonical Allele Identifier: CA8584547

Gene: WNK4 COA3

Linked Data

• ClinVar Variation Id: 323351
• ClinVar RCV Id: RCV000387384 ; RCV000912774
• dbSNP Id: rs148648427
• ExAC: 17:40947871 T / C
• gnomAD v2: 17-40947871-T-C
• gnomAD v3: 17-42795853-T-C
• gnomAD v4: 17-42795853-T-C
• MyVariant Identifiers: chr17:g.40947871T>C (hg19) ; chr17:g.42795853T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42795853T>C , CM000679.2:g.42795853T>C	GRCh38
NC_000017.10:g.40947871T>C , CM000679.1:g.40947871T>C	GRCh37
NC_000017.9:g.38201397T>C	NCBI36
NG_016227.1:g.20223T>C
NG_046771.1:g.7873A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246914.10:c.3251T>C (WNK4) MANE Select	ENSP00000246914.4:p.Val1084Ala
ENST00000246914.9:c.3251T>C (WNK4)	ENSP00000246914.4:p.Val1084Ala
ENST00000586680.1:c.*443A>G (COA3)	ENSP00000467546.1:n.*443A>G
ENST00000591448.5:c.*1752T>C (WNK4)	ENSP00000467088.1:n.*1752T>C
NM_032387.4:c.3251T>C (WNK4)	NP_115763.2:p.Val1084Ala
XM_005257595.3:c.3251T>C (WNK4)	XP_005257652.1:p.Val1084Ala
XM_005257596.2:c.3248T>C (WNK4)	XP_005257653.1:p.Val1083Ala
XM_005257597.3:c.3251T>C (WNK4)	XP_005257654.1:p.Val1084Ala
XM_006722020.2:c.3113T>C (WNK4)	XP_006722083.1:p.Val1038Ala
XM_006722021.1:c.2243T>C (WNK4)	XP_006722084.1:p.Val748Ala
XM_006722022.1:c.2243T>C (WNK4)	XP_006722085.1:p.Val748Ala
XM_011525132.1:c.3248T>C (WNK4)	XP_011523434.1:p.Val1083Ala
XM_011525133.1:c.3251T>C (WNK4)	XP_011523435.1:p.Val1084Ala
XM_011525134.1:c.3110T>C (WNK4)	XP_011523436.1:p.Val1037Ala
XM_011525135.1:c.3251T>C (WNK4)	XP_011523437.1:p.Val1084Ala
NM_001321299.1:c.2243T>C (WNK4)	NP_001308228.1:p.Val748Ala
XM_017024962.1:c.3251T>C (WNK4)	XP_016880451.1:p.Val1084Ala
XM_017024966.1:c.2243T>C (WNK4)	XP_016880455.1:p.Val748Ala
NM_032387.5:c.3251T>C (WNK4) MANE Select	NP_115763.2:p.Val1084Ala
NM_001321299.2:c.2243T>C (WNK4)	NP_001308228.1:p.Val748Ala