Linked Data
ClinVar Variation Id:
298369
ClinVar RCV Id:
RCV000267088
dbSNP Id:
rs56206689
gnomAD v2:
10-101469061-A-C
gnomAD v3:
10-99709304-A-C
gnomAD v4:
10-99709304-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99709304A>C , CM000672.2:g.99709304A>C | GRCh38 |
| NC_000010.10:g.101469061A>C , CM000672.1:g.101469061A>C | GRCh37 |
| NC_000010.9:g.101459051A>C | NCBI36 |
| NG_008986.1:g.28363T>G , LRG_406:g.28363T>G | |
| NG_053079.1:g.54928A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370489.5:c.*4621A>C (ENTPD7) MANE Select | ENSP00000359520.4:n.*4621A>C | |
| ENST00000649102.1:c.*460+7044T>G | ENSP00000497114.1:n.*460+7044T>G | |
| ENST00000493385.5:n.116+6631A>C (CUTC) | ||
| NM_004376.5:c.*4110T>G , LRG_406t2:c.*4110T>G (COX15) | NP_004367.2:n.*4110T>G | |
| NM_020354.3:c.*4621A>C (ENTPD7) | NP_065087.1:n.*4621A>C | |
| NM_078470.4:c.*5283T>G , LRG_406t1:c.*5283T>G (COX15) | NP_510870.1:n.*5283T>G | |
| XM_005269539.3:c.1101+7044T>G (COX15) | XP_005269596.1:n.1101+7044T>G | |
| XM_006717634.2:c.*49+7044T>G (COX15) | XP_006717697.1:n.*49+7044T>G | |
| NM_001320974.1:c.1101+7044T>G (COX15) | NP_001307903.1:n.1101+7044T>G | |
| NM_001349962.1:c.*4621A>C (ENTPD7) | NP_001336891.1:n.*4621A>C | |
| NM_001349963.1:c.*4621A>C (ENTPD7) | NP_001336892.1:n.*4621A>C | |
| NM_020354.4:c.*4621A>C (ENTPD7) | NP_065087.1:n.*4621A>C | |
| XM_006717634.3:c.*49+7044T>G (COX15) | XP_006717697.1:n.*49+7044T>G | |
| NM_020354.5:c.*4621A>C (ENTPD7) MANE Select | NP_065087.1:n.*4621A>C | |
| NM_001320974.2:c.1101+7044T>G (COX15) | NP_001307903.1:n.1101+7044T>G | |
| NM_001349962.2:c.*4621A>C (ENTPD7) | NP_001336891.1:n.*4621A>C | |
| NM_001349963.2:c.*4621A>C (ENTPD7) | NP_001336892.1:n.*4621A>C |