Linked Data
ClinVar Variation Id:
2491272
ClinVar RCV Id:
RCV004280266
dbSNP Id:
rs1797873298
gnomAD v4:
7-99450756-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99450756T>C , CM000669.2:g.99450756T>C | GRCh38 |
| NC_000007.13:g.99048379T>C , CM000669.1:g.99048379T>C | GRCh37 |
| NC_000007.12:g.98886315T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292476.10:c.458T>C (CPSF4) MANE Select | ENSP00000292476.5:p.Val153Ala | |
| ENST00000292476.9:c.458T>C (CPSF4) | ENSP00000292476.5:p.Val153Ala | |
| ENST00000412686.5:c.299T>C (CPSF4) | ENSP00000401150.1:p.Val100Ala | |
| ENST00000413834.5:c.121+9330A>G (ATP5MF-PTCD1) | ENSP00000400168.1:n.121+9330A>G | |
| ENST00000414062.5:c.*130-1563A>G (ATP5MF) | ENSP00000412149.1:n.*130-1563A>G | |
| ENST00000430038.5:c.*495T>C (CPSF4) | ENSP00000401496.1:n.*495T>C | |
| ENST00000430982.1:c.-27+15355A>G (PTCD1) | ENSP00000390530.1:n.-27+15355A>G | |
| ENST00000436336.6:c.458T>C (CPSF4) | ENSP00000395311.2:p.Val153Ala | |
| ENST00000437572.1:n.70-2568A>G (ATP5MF-PTCD1) | ||
| ENST00000440514.1:c.102T>C (CPSF4) | ||
| ENST00000441580.5:c.299T>C (CPSF4) | ENSP00000402224.1:p.Val100Ala | |
| ENST00000451138.1:c.122-9269A>G (ATP5MF-PTCD1) | ENSP00000416954.1:n.122-9269A>G | |
| ENST00000451876.5:c.362T>C (CPSF4) | ENSP00000396060.1:p.Val121Ala | |
| ENST00000452047.1:c.304+385T>C (CPSF4) | ENSP00000392584.1:n.304+385T>C | |
| ENST00000466753.1:n.56-1563A>G (ATP5MF) | ||
| ENST00000471455.1:n.334T>C (CPSF4) | ||
| ENST00000482251.2:n.293T>C (CPSF4) | ||
| ENST00000484112.5:n.502T>C (CPSF4) | ||
| NM_001081559.1:c.458T>C (CPSF4) | NP_001075028.1:p.Val153Ala | |
| NM_001198879.1:c.121+9330A>G (ATP5MF-PTCD1) | NP_001185808.1:n.121+9330A>G | |
| NM_006693.2:c.458T>C (CPSF4) | NP_006684.1:p.Val153Ala | |
| XM_011515755.1:c.458T>C (CPSF4) | XP_011514057.1:p.Val153Ala | |
| XM_011515756.1:c.458T>C (CPSF4) | XP_011514058.1:p.Val153Ala | |
| XM_011515757.1:c.458T>C (CPSF4) | XP_011514059.1:p.Val153Ala | |
| XM_011515758.1:c.458T>C (CPSF4) | XP_011514060.1:p.Val153Ala | |
| NM_001081559.2:c.458T>C (CPSF4) | NP_001075028.1:p.Val153Ala | |
| NM_001318160.1:c.458T>C (CPSF4) | NP_001305089.1:p.Val153Ala | |
| NM_001318161.1:c.403+385T>C (CPSF4) | NP_001305090.1:n.403+385T>C | |
| NM_001318162.1:c.299T>C (CPSF4) | NP_001305091.1:p.Val100Ala | |
| NM_006693.3:c.458T>C (CPSF4) | NP_006684.1:p.Val153Ala | |
| XM_011515755.3:c.458T>C (CPSF4) | XP_011514057.1:p.Val153Ala | |
| XM_011515756.3:c.458T>C (CPSF4) | XP_011514058.1:p.Val153Ala | |
| XM_011515757.2:c.458T>C (CPSF4) | XP_011514059.1:p.Val153Ala | |
| XM_017011700.2:c.458T>C (CPSF4) | XP_016867189.1:p.Val153Ala | |
| XM_017011701.2:c.458T>C (CPSF4) | XP_016867190.1:p.Val153Ala | |
| XM_017011702.1:c.299T>C (CPSF4) | XP_016867191.1:p.Val100Ala | |
| XM_017011703.2:c.299T>C (CPSF4) | XP_016867192.1:p.Val100Ala | |
| NM_006693.4:c.458T>C (CPSF4) MANE Select | NP_006684.1:p.Val153Ala | |
| NM_001198879.2:c.121+9330A>G (ATP5MF-PTCD1) | NP_001185808.1:n.121+9330A>G | |
| NM_001081559.3:c.458T>C (CPSF4) | NP_001075028.1:p.Val153Ala | |
| NM_001318160.2:c.458T>C (CPSF4) | NP_001305089.1:p.Val153Ala | |
| NM_001318161.2:c.403+385T>C (CPSF4) | NP_001305090.1:n.403+385T>C | |
| NM_001318162.2:c.299T>C (CPSF4) | NP_001305091.1:p.Val100Ala |