Revel Score:
ENST00000511608
0.022
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013355 (MID)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00014138 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186209124C>T , CM000666.2:g.186209124C>T | GRCh38 |
| NC_000004.11:g.187130278C>T , CM000666.1:g.187130278C>T | GRCh37 |
| NC_000004.10:g.187367272C>T | NCBI36 |
| NG_007965.1:g.22605C>T | |
| NG_012095.2:g.5146C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1257C>T (CYP4V2) MANE Select | ENSP00000368079.4:p.Ala419= | |
| ENST00000378802.4:c.1257C>T (CYP4V2) | ENSP00000368079.4:p.Ala419= | |
| ENST00000502665.1:n.492C>T (CYP4V2) | ||
| ENST00000507209.5:n.5955C>T (CYP4V2) | ||
| ENST00000511608.5:c.53C>T (KLKB1) | ||
| ENST00000513354.5:n.347C>T (CYP4V2) | ||
| NM_207352.3:c.1257C>T (CYP4V2) | NP_997235.3:p.Ala419= | |
| XM_005262935.2:c.1254C>T (CYP4V2) | XP_005262992.1:p.Ala418= | |
| XM_006714184.2:c.861C>T (CYP4V2) | XP_006714247.1:p.Ala287= | |
| XM_005262935.4:c.1254C>T (CYP4V2) | XP_005262992.1:p.Ala418= | |
| XM_017008037.1:c.861C>T (CYP4V2) | XP_016863526.1:p.Ala287= | |
| NM_207352.4:c.1257C>T (CYP4V2) MANE Select | NP_997235.3:p.Ala419= |