Linked Data
ClinVar Variation Id:
323345
dbSNP Id:
rs200187290
ExAC:
17:40947276 C / G
gnomAD v2:
17-40947276-C-G
gnomAD v3:
17-42795258-C-G
gnomAD v4:
17-42795258-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42795258C>G , CM000679.2:g.42795258C>G | GRCh38 |
| NC_000017.10:g.40947276C>G , CM000679.1:g.40947276C>G | GRCh37 |
| NC_000017.9:g.38200802C>G | NCBI36 |
| NG_016227.1:g.19628C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246914.10:c.2837C>G (WNK4) MANE Select | ENSP00000246914.4:p.Pro946Arg | |
| ENST00000246914.9:c.2837C>G (WNK4) | ENSP00000246914.4:p.Pro946Arg | |
| ENST00000586680.1:c.*1038G>C (COA3) | ENSP00000467546.1:n.*1038G>C | |
| ENST00000587745.1:c.71-367C>G (WNK4) | ENSP00000467312.1:n.71-367C>G | |
| ENST00000591448.5:c.*1338C>G (WNK4) | ENSP00000467088.1:n.*1338C>G | |
| NM_032387.4:c.2837C>G (WNK4) | NP_115763.2:p.Pro946Arg | |
| XM_005257595.3:c.2837C>G (WNK4) | XP_005257652.1:p.Pro946Arg | |
| XM_005257596.2:c.2834C>G (WNK4) | XP_005257653.1:p.Pro945Arg | |
| XM_005257597.3:c.2837C>G (WNK4) | XP_005257654.1:p.Pro946Arg | |
| XM_006722020.2:c.2699C>G (WNK4) | XP_006722083.1:p.Pro900Arg | |
| XM_006722021.1:c.1829C>G (WNK4) | XP_006722084.1:p.Pro610Arg | |
| XM_006722022.1:c.1829C>G (WNK4) | XP_006722085.1:p.Pro610Arg | |
| XM_011525132.1:c.2834C>G (WNK4) | XP_011523434.1:p.Pro945Arg | |
| XM_011525133.1:c.2837C>G (WNK4) | XP_011523435.1:p.Pro946Arg | |
| XM_011525134.1:c.2696C>G (WNK4) | XP_011523436.1:p.Pro899Arg | |
| XM_011525135.1:c.2837C>G (WNK4) | XP_011523437.1:p.Pro946Arg | |
| NM_001321299.1:c.1829C>G (WNK4) | NP_001308228.1:p.Pro610Arg | |
| XM_017024962.1:c.2837C>G (WNK4) | XP_016880451.1:p.Pro946Arg | |
| XM_017024966.1:c.1829C>G (WNK4) | XP_016880455.1:p.Pro610Arg | |
| NM_032387.5:c.2837C>G (WNK4) MANE Select | NP_115763.2:p.Pro946Arg | |
| NM_001321299.2:c.1829C>G (WNK4) | NP_001308228.1:p.Pro610Arg |