Linked Data
ClinVar Variation Id:
323350
dbSNP Id:
rs56099549
ExAC:
17:40947694 C / T
gnomAD v2:
17-40947694-C-T
gnomAD v3:
17-42795676-C-T
gnomAD v4:
17-42795676-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42795676C>T , CM000679.2:g.42795676C>T | GRCh38 |
| NC_000017.10:g.40947694C>T , CM000679.1:g.40947694C>T | GRCh37 |
| NC_000017.9:g.38201220C>T | NCBI36 |
| NG_016227.1:g.20046C>T | |
| NG_046771.1:g.8050G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246914.10:c.3074C>T (WNK4) MANE Select | ENSP00000246914.4:p.Pro1025Leu | |
| ENST00000246914.9:c.3074C>T (WNK4) | ENSP00000246914.4:p.Pro1025Leu | |
| ENST00000586680.1:c.*620G>A (COA3) | ENSP00000467546.1:n.*620G>A | |
| ENST00000587745.1:c.122C>T (WNK4) | ENSP00000467312.1:p.Pro41Leu | |
| ENST00000591448.5:c.*1575C>T (WNK4) | ENSP00000467088.1:n.*1575C>T | |
| NM_032387.4:c.3074C>T (WNK4) | NP_115763.2:p.Pro1025Leu | |
| XM_005257595.3:c.3074C>T (WNK4) | XP_005257652.1:p.Pro1025Leu | |
| XM_005257596.2:c.3071C>T (WNK4) | XP_005257653.1:p.Pro1024Leu | |
| XM_005257597.3:c.3074C>T (WNK4) | XP_005257654.1:p.Pro1025Leu | |
| XM_006722020.2:c.2936C>T (WNK4) | XP_006722083.1:p.Pro979Leu | |
| XM_006722021.1:c.2066C>T (WNK4) | XP_006722084.1:p.Pro689Leu | |
| XM_006722022.1:c.2066C>T (WNK4) | XP_006722085.1:p.Pro689Leu | |
| XM_011525132.1:c.3071C>T (WNK4) | XP_011523434.1:p.Pro1024Leu | |
| XM_011525133.1:c.3074C>T (WNK4) | XP_011523435.1:p.Pro1025Leu | |
| XM_011525134.1:c.2933C>T (WNK4) | XP_011523436.1:p.Pro978Leu | |
| XM_011525135.1:c.3074C>T (WNK4) | XP_011523437.1:p.Pro1025Leu | |
| NM_001321299.1:c.2066C>T (WNK4) | NP_001308228.1:p.Pro689Leu | |
| XM_017024962.1:c.3074C>T (WNK4) | XP_016880451.1:p.Pro1025Leu | |
| XM_017024966.1:c.2066C>T (WNK4) | XP_016880455.1:p.Pro689Leu | |
| NM_032387.5:c.3074C>T (WNK4) MANE Select | NP_115763.2:p.Pro1025Leu | |
| NM_001321299.2:c.2066C>T (WNK4) | NP_001308228.1:p.Pro689Leu |