Linked Data
dbSNP Id:
rs746094662
gnomAD v2:
16-773791-G-C
gnomAD v3:
16-723791-G-C
gnomAD v4:
16-723791-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.723791G>C , CM000678.2:g.723791G>C | GRCh38 |
| NC_000016.9:g.773791G>C , CM000678.1:g.773791G>C | GRCh37 |
| NC_000016.8:g.713792G>C | NCBI36 |
| NG_032932.1:g.7683C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682391.1:n.1676+66C>G (CCDC78) | ||
| ENST00000345165.10:c.1133+66C>G (CCDC78) MANE Select | ENSP00000316851.5:n.1133+66C>G | |
| ENST00000293889.10:c.1133+66C>G (CCDC78) | ENSP00000293889.6:n.1133+66C>G | |
| ENST00000345165.8:c.679+66C>G (CCDC78) | ||
| ENST00000463539.5:n.1455+66C>G (CCDC78) | ||
| ENST00000466708.5:n.1477+66C>G (CCDC78) | ||
| ENST00000478979.5:n.1846C>G (CCDC78) | ||
| ENST00000481804.5:n.2177C>G (CCDC78) | ||
| ENST00000482152.1:n.494+66C>G (CCDC78) | ||
| ENST00000482878.5:n.2249C>G (CCDC78) | ||
| ENST00000485091.5:n.1286+66C>G (CCDC78) | ||
| ENST00000620831.4:c.-49-38841G>C (MSLN) | ENSP00000482893.1:n.-49-38841G>C | |
| NM_001031737.2:c.1133+66C>G (CCDC78) | NP_001026907.2:n.1133+66C>G | |
| XM_006720838.1:c.1355+66C>G (CCDC78) | XP_006720901.1:n.1355+66C>G | |
| XM_006720843.2:c.1133+66C>G (CCDC78) | XP_006720906.1:n.1133+66C>G | |
| XM_011522356.1:c.1580+66C>G (CCDC78) | XP_011520658.1:n.1580+66C>G | |
| XM_011522357.1:c.1568+66C>G (CCDC78) | XP_011520659.1:n.1568+66C>G | |
| XM_011522358.1:c.1580+66C>G (CCDC78) | XP_011520660.1:n.1580+66C>G | |
| XM_011522359.1:c.1547+66C>G (CCDC78) | XP_011520661.1:n.1547+66C>G | |
| XM_011522360.1:c.1535+66C>G (CCDC78) | XP_011520662.1:n.1535+66C>G | |
| XM_011522361.1:c.1580+66C>G (CCDC78) | XP_011520663.1:n.1580+66C>G | |
| XM_011522362.1:c.1580+66C>G (CCDC78) | XP_011520664.1:n.1580+66C>G | |
| XM_011522363.1:c.1580+66C>G (CCDC78) | XP_011520665.1:n.1580+66C>G | |
| XM_011522364.1:c.1580+66C>G (CCDC78) | XP_011520666.1:n.1580+66C>G | |
| XM_011522365.1:c.1367+66C>G (CCDC78) | XP_011520667.1:n.1367+66C>G | |
| XM_011522366.1:c.1358+66C>G (CCDC78) | XP_011520668.1:n.1358+66C>G | |
| XM_011522367.1:c.1199+66C>G (CCDC78) | XP_011520669.1:n.1199+66C>G | |
| XM_011522368.1:c.1187+66C>G (CCDC78) | XP_011520670.1:n.1187+66C>G | |
| XM_011522369.1:c.1145+66C>G (CCDC78) | XP_011520671.1:n.1145+66C>G | |
| XM_011522370.1:c.977+66C>G (CCDC78) | XP_011520672.1:n.977+66C>G | |
| XM_011522371.1:c.692+66C>G (CCDC78) | XP_011520673.1:n.692+66C>G | |
| XM_006720843.4:c.1133+66C>G (CCDC78) | XP_006720906.1:n.1133+66C>G | |
| XM_011522358.2:c.1580+66C>G (CCDC78) | XP_011520660.1:n.1580+66C>G | |
| XM_011522371.2:c.692+66C>G (CCDC78) | XP_011520673.1:n.692+66C>G | |
| XM_017022929.1:c.1580+66C>G (CCDC78) | XP_016878418.1:n.1580+66C>G | |
| XM_017022930.1:c.680+66C>G (CCDC78) | XP_016878419.1:n.680+66C>G | |
| XM_017022931.1:c.-55C>G (CCDC78) | XP_016878420.1:n.-55C>G | |
| XM_024450150.1:c.410+66C>G (CCDC78) | XP_024305918.1:n.410+66C>G | |
| XR_001751835.1:n.1919+66C>G (CCDC78) | ||
| XR_001751836.1:n.1898+66C>G (CCDC78) | ||
| XR_001751837.1:n.1676+66C>G (CCDC78) | ||
| XR_001751838.1:n.2022+66C>G (CCDC78) | ||
| XR_001751839.1:n.1484+66C>G (CCDC78) | ||
| NM_001031737.3:c.1133+66C>G (CCDC78) | NP_001026907.2:n.1133+66C>G | |
| NM_001378030.1:c.1133+66C>G (CCDC78) MANE Select | NP_001364959.1:n.1133+66C>G | |
| NM_001378031.1:c.953+531C>G (CCDC78) | NP_001364960.1:n.953+531C>G | |
| NM_001378033.1:c.566+66C>G (CCDC78) | NP_001364962.1:n.566+66C>G | |
| NR_165382.1:n.1690+66C>G (CCDC78) | ||
| NR_165383.1:n.1336+66C>G (CCDC78) | ||
| NR_165384.1:n.1301+66C>G (CCDC78) | ||
| NR_165385.1:n.1401+66C>G (CCDC78) | ||
| NR_165386.1:n.1468+66C>G (CCDC78) |