gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186209215C>T , CM000666.2:g.186209215C>T | GRCh38 |
| NC_000004.11:g.187130369C>T , CM000666.1:g.187130369C>T | GRCh37 |
| NC_000004.10:g.187367363C>T | NCBI36 |
| NG_007965.1:g.22696C>T | |
| NG_012095.2:g.5237C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1348C>T (CYP4V2) MANE Select | ENSP00000368079.4:p.Gln450Ter | |
| ENST00000378802.4:c.1348C>T (CYP4V2) | ENSP00000368079.4:p.Gln450Ter | |
| ENST00000502665.1:n.583C>T (CYP4V2) | ||
| ENST00000507209.5:n.6046C>T (CYP4V2) | ||
| ENST00000511608.5:c.144C>T (KLKB1) | ||
| ENST00000513354.5:n.438C>T (CYP4V2) | ||
| NM_207352.3:c.1348C>T (CYP4V2) | NP_997235.3:p.Gln450Ter | |
| XM_005262935.2:c.1345C>T (CYP4V2) | XP_005262992.1:p.Gln449Ter | |
| XM_006714184.2:c.952C>T (CYP4V2) | XP_006714247.1:p.Gln318Ter | |
| XM_005262935.4:c.1345C>T (CYP4V2) | XP_005262992.1:p.Gln449Ter | |
| XM_017008037.1:c.952C>T (CYP4V2) | XP_016863526.1:p.Gln318Ter | |
| NM_207352.4:c.1348C>T (CYP4V2) MANE Select | NP_997235.3:p.Gln450Ter |