Revel Score:
ENST00000378802 (MANE Select)
0.301
ENST00000274118
0.301
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00005818 (MID)
Exomes Max Group AF
0.00006092 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186209108T>C , CM000666.2:g.186209108T>C | GRCh38 |
| NC_000004.11:g.187130262T>C , CM000666.1:g.187130262T>C | GRCh37 |
| NC_000004.10:g.187367256T>C | NCBI36 |
| NG_007965.1:g.22589T>C | |
| NG_012095.2:g.5130T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1241T>C (CYP4V2) MANE Select | ENSP00000368079.4:p.Leu414Pro | |
| ENST00000378802.4:c.1241T>C (CYP4V2) | ENSP00000368079.4:p.Leu414Pro | |
| ENST00000502665.1:n.476T>C (CYP4V2) | ||
| ENST00000507209.5:n.5939T>C (CYP4V2) | ||
| ENST00000511608.5:c.37T>C (KLKB1) | ||
| ENST00000513354.5:n.331T>C (CYP4V2) | ||
| NM_207352.3:c.1241T>C (CYP4V2) | NP_997235.3:p.Leu414Pro | |
| XM_005262935.2:c.1238T>C (CYP4V2) | XP_005262992.1:p.Leu413Pro | |
| XM_006714184.2:c.845T>C (CYP4V2) | XP_006714247.1:p.Leu282Pro | |
| XM_005262935.4:c.1238T>C (CYP4V2) | XP_005262992.1:p.Leu413Pro | |
| XM_017008037.1:c.845T>C (CYP4V2) | XP_016863526.1:p.Leu282Pro | |
| NM_207352.4:c.1241T>C (CYP4V2) MANE Select | NP_997235.3:p.Leu414Pro |