Revel Score:
ENST00000306324 (MANE Select)
0.458
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00173686 (NFE)
Genomes Max Group AF
0.00138597 (NFE)
Exomes Max Group AF
0.00174517 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176151875A>T , CM000664.2:g.176151875A>T | GRCh38 |
| NC_000002.11:g.177016603A>T , CM000664.1:g.177016603A>T | GRCh37 |
| NC_000002.10:g.176724849A>T | NCBI36 |
| NG_012080.1:g.5491A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306324.4:c.242A>T (HOXD4) MANE Select | ENSP00000302548.3:p.Glu81Val | |
| ENST00000306324.3:c.242A>T (HOXD4) | ENSP00000302548.3:p.Glu81Val | |
| ENST00000432796.2:c.-85+14876A>T (HOXD3) | ENSP00000392615.2:n.-85+14876A>T | |
| ENST00000468418.4:c.242A>T | ENSP00000424734.3:p.Glu81Val | |
| NM_014621.2:c.242A>T (HOXD4) | NP_055436.2:p.Glu81Val | |
| XM_005246510.3:c.-180-12198A>T (HOXD3) | XP_005246567.1:n.-180-12198A>T | |
| XM_005246514.3:c.242A>T (HOXD4) | XP_005246571.1:p.Glu81Val | |
| XM_006712477.2:c.-85+14876A>T (HOXD3) | XP_006712540.1:n.-85+14876A>T | |
| XM_005246514.4:c.242A>T (HOXD4) | XP_005246571.1:p.Glu81Val | |
| NM_014621.3:c.242A>T (HOXD4) MANE Select | NP_055436.2:p.Glu81Val |