Revel Score:
ENST00000420792
0.061
ENST00000448430
0.061
ENST00000380679
0.061
ENST00000457155
0.061
ENST00000321149 (MANE Select)
0.061
ENST00000348518
0.061
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73748893 (EAS)
Genomes Max Group AF
0.72433988 (EAS)
Exomes Max Group AF
0.73709097 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.55466995T>C , CM000677.2:g.55466995T>C | GRCh38 |
| NC_000015.9:g.55759193T>C , CM000677.1:g.55759193T>C | GRCh37 |
| NC_000015.8:g.53546485T>C | NCBI36 |
| NG_021213.1:g.46240A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321149.7:c.572A>G (DNAAF4) MANE Select | ENSP00000323275.3:p.Glu191Gly | |
| ENST00000348518.4:c.572A>G (DNAAF4) | ENSP00000299561.5:p.Glu191Gly | |
| ENST00000448430.6:c.572A>G (DNAAF4) | ENSP00000403412.2:p.Glu191Gly | |
| ENST00000457155.6:c.572A>G (DNAAF4) | ENSP00000402640.2:p.Glu191Gly | |
| ENST00000522437.1:c.*382A>G (DNAAF4) | ENSP00000429219.1:n.*382A>G | |
| ENST00000524160.5:c.406-16628A>G (DNAAF4) | ENSP00000428097.1:n.406-16628A>G | |
| NM_001033559.2:c.572A>G (DNAAF4) | NP_001028731.1:p.Glu191Gly | |
| NM_001033560.1:c.572A>G (DNAAF4) | NP_001028732.1:p.Glu191Gly | |
| NM_130810.3:c.572A>G (DNAAF4) | NP_570722.2:p.Glu191Gly | |
| NR_037923.1:n.827A>G (DNAAF4-CCPG1) | ||
| NM_130810.4:c.572A>G (DNAAF4) MANE Select | NP_570722.2:p.Glu191Gly | |
| NM_001033559.3:c.572A>G (DNAAF4) | NP_001028731.1:p.Glu191Gly | |
| NM_001033560.2:c.572A>G (DNAAF4) | NP_001028732.1:p.Glu191Gly |