Linked Data
ClinVar Variation Id:
323358
ClinVar RCV Id:
RCV000299786
dbSNP Id:
rs886052954
gnomAD v4:
17-42797028-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42797028C>A , CM000679.2:g.42797028C>A | GRCh38 |
| NC_000017.10:g.40949046C>A , CM000679.1:g.40949046C>A | GRCh37 |
| NC_000017.9:g.38202572C>A | NCBI36 |
| NG_016227.1:g.21398C>A | |
| NG_046771.1:g.6698G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246914.10:c.*340C>A (WNK4) MANE Select | ENSP00000246914.4:n.*340C>A | |
| ENST00000586680.1:c.215-264G>T (COA3) | ENSP00000467546.1:n.215-264G>T | |
| NM_032387.4:c.*340C>A (WNK4) | NP_115763.2:n.*340C>A | |
| XM_005257595.3:c.*260C>A (WNK4) | XP_005257652.1:n.*260C>A | |
| XM_005257596.2:c.*340C>A (WNK4) | XP_005257653.1:n.*340C>A | |
| XM_005257597.3:c.*260C>A (WNK4) | XP_005257654.1:n.*260C>A | |
| XM_006722020.2:c.*260C>A (WNK4) | XP_006722083.1:n.*260C>A | |
| XM_006722021.1:c.*260C>A (WNK4) | XP_006722084.1:n.*260C>A | |
| XM_006722022.1:c.*340C>A (WNK4) | XP_006722085.1:n.*340C>A | |
| XM_011525132.1:c.*260C>A (WNK4) | XP_011523434.1:n.*260C>A | |
| XM_011525133.1:c.*260C>A (WNK4) | XP_011523435.1:n.*260C>A | |
| XM_011525134.1:c.*260C>A (WNK4) | XP_011523436.1:n.*260C>A | |
| NM_001321299.1:c.*340C>A (WNK4) | NP_001308228.1:n.*340C>A | |
| XM_017024962.1:c.*270C>A (WNK4) | XP_016880451.1:n.*270C>A | |
| XM_017024966.1:c.*270C>A (WNK4) | XP_016880455.1:n.*270C>A | |
| NM_032387.5:c.*340C>A (WNK4) MANE Select | NP_115763.2:n.*340C>A | |
| NM_001321299.2:c.*340C>A (WNK4) | NP_001308228.1:n.*340C>A |