Revel Score:
ENST00000511608
0.150
ENST00000378802 (MANE Select)
0.505
ENST00000274118
0.505
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186209114G>A , CM000666.2:g.186209114G>A | GRCh38 |
| NC_000004.11:g.187130268G>A , CM000666.1:g.187130268G>A | GRCh37 |
| NC_000004.10:g.187367262G>A | NCBI36 |
| NG_007965.1:g.22595G>A | |
| NG_012095.2:g.5136G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1247G>A (CYP4V2) MANE Select | ENSP00000368079.4:p.Gly416Asp | |
| ENST00000378802.4:c.1247G>A (CYP4V2) | ENSP00000368079.4:p.Gly416Asp | |
| ENST00000502665.1:n.482G>A (CYP4V2) | ||
| ENST00000507209.5:n.5945G>A (CYP4V2) | ||
| ENST00000511608.5:c.43G>A (KLKB1) | ||
| ENST00000513354.5:n.337G>A (CYP4V2) | ||
| NM_207352.3:c.1247G>A (CYP4V2) | NP_997235.3:p.Gly416Asp | |
| XM_005262935.2:c.1244G>A (CYP4V2) | XP_005262992.1:p.Gly415Asp | |
| XM_006714184.2:c.851G>A (CYP4V2) | XP_006714247.1:p.Gly284Asp | |
| XM_005262935.4:c.1244G>A (CYP4V2) | XP_005262992.1:p.Gly415Asp | |
| XM_017008037.1:c.851G>A (CYP4V2) | XP_016863526.1:p.Gly284Asp | |
| NM_207352.4:c.1247G>A (CYP4V2) MANE Select | NP_997235.3:p.Gly416Asp |