Linked Data
ClinVar Variation Id:
323356
ClinVar RCV Id:
RCV000335115
dbSNP Id:
rs61755635
ExAC:
17:40948712 G / A
gnomAD v2:
17-40948712-G-A
gnomAD v3:
17-42796694-G-A
gnomAD v4:
17-42796694-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42796694G>A , CM000679.2:g.42796694G>A | GRCh38 |
| NC_000017.10:g.40948712G>A , CM000679.1:g.40948712G>A | GRCh37 |
| NC_000017.9:g.38202238G>A | NCBI36 |
| NG_016227.1:g.21064G>A | |
| NG_046771.1:g.7032C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246914.10:c.*6G>A (WNK4) MANE Select | ENSP00000246914.4:n.*6G>A | |
| ENST00000246914.9:c.*6G>A (WNK4) | ENSP00000246914.4:n.*6G>A | |
| ENST00000586680.1:c.*69C>T (COA3) | ENSP00000467546.1:n.*69C>T | |
| ENST00000591448.5:c.*2239G>A (WNK4) | ENSP00000467088.1:n.*2239G>A | |
| NM_032387.4:c.*6G>A (WNK4) | NP_115763.2:n.*6G>A | |
| XM_005257595.3:c.3766G>A (WNK4) | XP_005257652.1:p.Glu1256Lys | |
| XM_005257596.2:c.*6G>A (WNK4) | XP_005257653.1:n.*6G>A | |
| XM_005257597.3:c.3640G>A (WNK4) | XP_005257654.1:p.Glu1214Lys | |
| XM_006722020.2:c.3628G>A (WNK4) | XP_006722083.1:p.Glu1210Lys | |
| XM_006722021.1:c.2758G>A (WNK4) | XP_006722084.1:p.Glu920Lys | |
| XM_006722022.1:c.*6G>A (WNK4) | XP_006722085.1:n.*6G>A | |
| XM_011525132.1:c.3763G>A (WNK4) | XP_011523434.1:p.Glu1255Lys | |
| XM_011525133.1:c.3724G>A (WNK4) | XP_011523435.1:p.Glu1242Lys | |
| XM_011525134.1:c.3625G>A (WNK4) | XP_011523436.1:p.Glu1209Lys | |
| XM_011525135.1:c.*6G>A (WNK4) | XP_011523437.1:n.*6G>A | |
| NM_001321299.1:c.*6G>A (WNK4) | NP_001308228.1:n.*6G>A | |
| XM_017024962.1:c.3845G>A (WNK4) | XP_016880451.1:p.Arg1282Lys | |
| XM_017024966.1:c.2837G>A (WNK4) | XP_016880455.1:p.Arg946Lys | |
| NM_032387.5:c.*6G>A (WNK4) MANE Select | NP_115763.2:n.*6G>A | |
| NM_001321299.2:c.*6G>A (WNK4) | NP_001308228.1:n.*6G>A |