Linked Data
ClinVar Variation Id:
298367
ClinVar RCV Id:
RCV000316200
dbSNP Id:
rs138423739
gnomAD v2:
10-101468953-G-A
gnomAD v3:
10-99709196-G-A
gnomAD v4:
10-99709196-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99709196G>A , CM000672.2:g.99709196G>A | GRCh38 |
| NC_000010.10:g.101468953G>A , CM000672.1:g.101468953G>A | GRCh37 |
| NC_000010.9:g.101458943G>A | NCBI36 |
| NG_008986.1:g.28471C>T , LRG_406:g.28471C>T | |
| NG_053079.1:g.54820G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370489.5:c.*4513G>A (ENTPD7) MANE Select | ENSP00000359520.4:n.*4513G>A | |
| ENST00000649102.1:c.*460+7152C>T | ENSP00000497114.1:n.*460+7152C>T | |
| ENST00000493385.5:n.116+6523G>A (CUTC) | ||
| NM_004376.5:c.*4218C>T , LRG_406t2:c.*4218C>T (COX15) | NP_004367.2:n.*4218C>T | |
| NM_020354.3:c.*4513G>A (ENTPD7) | NP_065087.1:n.*4513G>A | |
| NM_078470.4:c.*5391C>T , LRG_406t1:c.*5391C>T (COX15) | NP_510870.1:n.*5391C>T | |
| XM_005269539.3:c.1101+7152C>T (COX15) | XP_005269596.1:n.1101+7152C>T | |
| XM_006717634.2:c.*49+7152C>T (COX15) | XP_006717697.1:n.*49+7152C>T | |
| NM_001320974.1:c.1101+7152C>T (COX15) | NP_001307903.1:n.1101+7152C>T | |
| NM_001349962.1:c.*4513G>A (ENTPD7) | NP_001336891.1:n.*4513G>A | |
| NM_001349963.1:c.*4513G>A (ENTPD7) | NP_001336892.1:n.*4513G>A | |
| NM_020354.4:c.*4513G>A (ENTPD7) | NP_065087.1:n.*4513G>A | |
| XM_006717634.3:c.*49+7152C>T (COX15) | XP_006717697.1:n.*49+7152C>T | |
| NM_020354.5:c.*4513G>A (ENTPD7) MANE Select | NP_065087.1:n.*4513G>A | |
| NM_001320974.2:c.1101+7152C>T (COX15) | NP_001307903.1:n.1101+7152C>T | |
| NM_001349962.2:c.*4513G>A (ENTPD7) | NP_001336891.1:n.*4513G>A | |
| NM_001349963.2:c.*4513G>A (ENTPD7) | NP_001336892.1:n.*4513G>A |