Linked Data
ClinVar Variation Id:
298365
ClinVar RCV Id:
RCV000356005
dbSNP Id:
rs74152722
gnomAD v2:
10-101468736-T-C
gnomAD v3:
10-99708979-T-C
gnomAD v4:
10-99708979-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99708979T>C , CM000672.2:g.99708979T>C | GRCh38 |
| NC_000010.10:g.101468736T>C , CM000672.1:g.101468736T>C | GRCh37 |
| NC_000010.9:g.101458726T>C | NCBI36 |
| NG_008986.1:g.28688A>G , LRG_406:g.28688A>G | |
| NG_053079.1:g.54603T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370489.5:c.*4296T>C (ENTPD7) MANE Select | ENSP00000359520.4:n.*4296T>C | |
| ENST00000649102.1:c.*460+7369A>G | ENSP00000497114.1:n.*460+7369A>G | |
| ENST00000493385.5:n.116+6306T>C (CUTC) | ||
| NM_004376.5:c.*4435A>G , LRG_406t2:c.*4435A>G (COX15) | NP_004367.2:n.*4435A>G | |
| NM_020354.3:c.*4296T>C (ENTPD7) | NP_065087.1:n.*4296T>C | |
| NM_078470.4:c.*5608A>G , LRG_406t1:c.*5608A>G (COX15) | NP_510870.1:n.*5608A>G | |
| XM_005269539.3:c.1101+7369A>G (COX15) | XP_005269596.1:n.1101+7369A>G | |
| XM_006717634.2:c.*49+7369A>G (COX15) | XP_006717697.1:n.*49+7369A>G | |
| NM_001320974.1:c.1101+7369A>G (COX15) | NP_001307903.1:n.1101+7369A>G | |
| NM_001349962.1:c.*4296T>C (ENTPD7) | NP_001336891.1:n.*4296T>C | |
| NM_001349963.1:c.*4296T>C (ENTPD7) | NP_001336892.1:n.*4296T>C | |
| NM_020354.4:c.*4296T>C (ENTPD7) | NP_065087.1:n.*4296T>C | |
| XM_006717634.3:c.*49+7369A>G (COX15) | XP_006717697.1:n.*49+7369A>G | |
| NM_020354.5:c.*4296T>C (ENTPD7) MANE Select | NP_065087.1:n.*4296T>C | |
| NM_001320974.2:c.1101+7369A>G (COX15) | NP_001307903.1:n.1101+7369A>G | |
| NM_001349962.2:c.*4296T>C (ENTPD7) | NP_001336891.1:n.*4296T>C | |
| NM_001349963.2:c.*4296T>C (ENTPD7) | NP_001336892.1:n.*4296T>C |