Linked Data
ClinVar Variation Id:
323351
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
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 |