Revel Score:
ENST00000378802 (MANE Select)
0.399
ENST00000274118
0.399
ENST00000511608
0.207
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186209226T>G , CM000666.2:g.186209226T>G | GRCh38 |
| NC_000004.11:g.187130380T>G , CM000666.1:g.187130380T>G | GRCh37 |
| NC_000004.10:g.187367374T>G | NCBI36 |
| NG_007965.1:g.22707T>G | |
| NG_012095.2:g.5248T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1359T>G (CYP4V2) MANE Select | ENSP00000368079.4:p.His453Gln | |
| ENST00000378802.4:c.1359T>G (CYP4V2) | ENSP00000368079.4:p.His453Gln | |
| ENST00000502665.1:n.594T>G (CYP4V2) | ||
| ENST00000507209.5:n.6057T>G (CYP4V2) | ||
| ENST00000511608.5:c.155T>G (KLKB1) | ||
| ENST00000513354.5:n.449T>G (CYP4V2) | ||
| NM_207352.3:c.1359T>G (CYP4V2) | NP_997235.3:p.His453Gln | |
| XM_005262935.2:c.1356T>G (CYP4V2) | XP_005262992.1:p.His452Gln | |
| XM_006714184.2:c.963T>G (CYP4V2) | XP_006714247.1:p.His321Gln | |
| XM_005262935.4:c.1356T>G (CYP4V2) | XP_005262992.1:p.His452Gln | |
| XM_017008037.1:c.963T>G (CYP4V2) | XP_016863526.1:p.His321Gln | |
| NM_207352.4:c.1359T>G (CYP4V2) MANE Select | NP_997235.3:p.His453Gln |