Revel Score:
ENST00000378802 (MANE Select)
0.513
ENST00000274118
0.513
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00020575 (EAS)
Exomes Max Group AF
0.00023278 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186208990T>C , CM000666.2:g.186208990T>C | GRCh38 |
| NC_000004.11:g.187130144T>C , CM000666.1:g.187130144T>C | GRCh37 |
| NC_000004.10:g.187367138T>C | NCBI36 |
| NG_007965.1:g.22471T>C | |
| NG_012095.2:g.5012T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1216T>C (CYP4V2) MANE Select | ENSP00000368079.4:p.Cys406Arg | |
| ENST00000378802.4:c.1216T>C (CYP4V2) | ENSP00000368079.4:p.Cys406Arg | |
| ENST00000502665.1:n.451T>C (CYP4V2) | ||
| ENST00000507209.5:n.5914T>C (CYP4V2) | ||
| ENST00000511608.5:c.12T>C (KLKB1) | ||
| ENST00000513354.5:n.306T>C (CYP4V2) | ||
| NM_207352.3:c.1216T>C (CYP4V2) | NP_997235.3:p.Cys406Arg | |
| XM_005262935.2:c.1216T>C (CYP4V2) | XP_005262992.1:p.Cys406Arg | |
| XM_006714184.2:c.820T>C (CYP4V2) | XP_006714247.1:p.Cys274Arg | |
| XM_005262935.4:c.1216T>C (CYP4V2) | XP_005262992.1:p.Cys406Arg | |
| XM_017008037.1:c.820T>C (CYP4V2) | XP_016863526.1:p.Cys274Arg | |
| NM_207352.4:c.1216T>C (CYP4V2) MANE Select | NP_997235.3:p.Cys406Arg |