Linked Data
ClinVar Variation Id:
298383
ClinVar RCV Id:
RCV000390482
dbSNP Id:
rs80332976
gnomAD v2:
10-101470531-A-C
gnomAD v3:
10-99710774-A-C
gnomAD v4:
10-99710774-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99710774A>C , CM000672.2:g.99710774A>C | GRCh38 |
| NC_000010.10:g.101470531A>C , CM000672.1:g.101470531A>C | GRCh37 |
| NC_000010.9:g.101460521A>C | NCBI36 |
| NG_008986.1:g.26893T>G , LRG_406:g.26893T>G | |
| NG_053079.1:g.56398A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370489.5:c.*6091A>C (ENTPD7) MANE Select | ENSP00000359520.4:n.*6091A>C | |
| ENST00000649102.1:c.*460+5574T>G | ENSP00000497114.1:n.*460+5574T>G | |
| ENST00000493385.5:n.116+8101A>C (CUTC) | ||
| NM_004376.5:c.*2640T>G , LRG_406t2:c.*2640T>G (COX15) | NP_004367.2:n.*2640T>G | |
| NM_020354.3:c.*6091A>C (ENTPD7) | NP_065087.1:n.*6091A>C | |
| NM_078470.4:c.*3813T>G , LRG_406t1:c.*3813T>G (COX15) | NP_510870.1:n.*3813T>G | |
| XM_005269539.3:c.1101+5574T>G (COX15) | XP_005269596.1:n.1101+5574T>G | |
| XM_006717634.2:c.*49+5574T>G (COX15) | XP_006717697.1:n.*49+5574T>G | |
| NM_001320974.1:c.1101+5574T>G (COX15) | NP_001307903.1:n.1101+5574T>G | |
| NM_001349962.1:c.*6091A>C (ENTPD7) | NP_001336891.1:n.*6091A>C | |
| NM_001349963.1:c.*6091A>C (ENTPD7) | NP_001336892.1:n.*6091A>C | |
| NM_020354.4:c.*6091A>C (ENTPD7) | NP_065087.1:n.*6091A>C | |
| XM_006717634.3:c.*49+5574T>G (COX15) | XP_006717697.1:n.*49+5574T>G | |
| NM_020354.5:c.*6091A>C (ENTPD7) MANE Select | NP_065087.1:n.*6091A>C | |
| NM_001320974.2:c.1101+5574T>G (COX15) | NP_001307903.1:n.1101+5574T>G | |
| NM_001349962.2:c.*6091A>C (ENTPD7) | NP_001336891.1:n.*6091A>C | |
| NM_001349963.2:c.*6091A>C (ENTPD7) | NP_001336892.1:n.*6091A>C |