Linked Data
ClinVar Variation Id:
1379344
ClinVar RCV Id:
RCV001891968
dbSNP Id:
rs746220304
ExAC:
4:187130355 TC / T
gnomAD v2:
4-187130355-TC-T
gnomAD v3:
4-186209201-TC-T
gnomAD v4:
4-186209201-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186209205del , CM000666.2:g.186209205del | GRCh38 |
| NC_000004.11:g.187130359del , CM000666.1:g.187130359del | GRCh37 |
| NC_000004.10:g.187367353del | NCBI36 |
| NG_007965.1:g.22686del | |
| NG_012095.2:g.5227del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1338del (CYP4V2) MANE Select | ENSP00000368079.4:p.Glu447ArgfsTer22 | |
| ENST00000378802.4:c.1338del (CYP4V2) | ENSP00000368079.4:p.Glu447ArgfsTer22 | |
| ENST00000502665.1:n.573del (CYP4V2) | ||
| ENST00000507209.5:n.6036del (CYP4V2) | ||
| ENST00000511608.5:c.134del (KLKB1) | ||
| ENST00000513354.5:n.428del (CYP4V2) | ||
| NM_207352.3:c.1338del (CYP4V2) | NP_997235.3:p.Glu447ArgfsTer22 | |
| XM_005262935.2:c.1335del (CYP4V2) | XP_005262992.1:p.Glu446ArgfsTer22 | |
| XM_006714184.2:c.942del (CYP4V2) | XP_006714247.1:p.Glu315ArgfsTer22 | |
| XM_005262935.4:c.1335del (CYP4V2) | XP_005262992.1:p.Glu446ArgfsTer22 | |
| XM_017008037.1:c.942del (CYP4V2) | XP_016863526.1:p.Glu315ArgfsTer22 | |
| NM_207352.4:c.1338del (CYP4V2) MANE Select | NP_997235.3:p.Glu447ArgfsTer22 |