Linked Data
ClinVar Variation Id:
473246
ClinVar RCV Id:
RCV000550251
dbSNP Id:
rs369908634
ExAC:
16:774120 G / A
gnomAD v2:
16-774120-G-A
gnomAD v3:
16-724120-G-A
gnomAD v4:
16-724120-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.724120G>A , CM000678.2:g.724120G>A | GRCh38 |
| NC_000016.9:g.774120G>A , CM000678.1:g.774120G>A | GRCh37 |
| NC_000016.8:g.714121G>A | NCBI36 |
| NG_032932.1:g.7354C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682391.1:n.1582C>T (CCDC78) | ||
| ENST00000345165.10:c.1039C>T (CCDC78) MANE Select | ENSP00000316851.5:p.His347Tyr | |
| ENST00000293889.10:c.1039C>T (CCDC78) | ENSP00000293889.6:p.His347Tyr | |
| ENST00000345165.8:c.585C>T (CCDC78) | ||
| ENST00000463539.5:n.1361C>T (CCDC78) | ||
| ENST00000466708.5:n.1383C>T (CCDC78) | ||
| ENST00000478979.5:n.1517C>T (CCDC78) | ||
| ENST00000481804.5:n.2017C>T (CCDC78) | ||
| ENST00000482152.1:n.400C>T (CCDC78) | ||
| ENST00000482878.5:n.1920C>T (CCDC78) | ||
| ENST00000485091.5:n.1192C>T (CCDC78) | ||
| ENST00000620831.4:c.-49-38512G>A (MSLN) | ENSP00000482893.1:n.-49-38512G>A | |
| NM_001031737.2:c.1039C>T (CCDC78) | NP_001026907.2:p.His347Tyr | |
| XM_006720838.1:c.1261C>T (CCDC78) | XP_006720901.1:p.His421Tyr | |
| XM_006720843.2:c.1039C>T (CCDC78) | XP_006720906.1:p.His347Tyr | |
| XM_011522356.1:c.1486C>T (CCDC78) | XP_011520658.1:p.His496Tyr | |
| XM_011522357.1:c.1474C>T (CCDC78) | XP_011520659.1:p.His492Tyr | |
| XM_011522358.1:c.1486C>T (CCDC78) | XP_011520660.1:p.His496Tyr | |
| XM_011522359.1:c.1453C>T (CCDC78) | XP_011520661.1:p.His485Tyr | |
| XM_011522360.1:c.1441C>T (CCDC78) | XP_011520662.1:p.His481Tyr | |
| XM_011522361.1:c.1486C>T (CCDC78) | XP_011520663.1:p.His496Tyr | |
| XM_011522362.1:c.1486C>T (CCDC78) | XP_011520664.1:p.His496Tyr | |
| XM_011522363.1:c.1486C>T (CCDC78) | XP_011520665.1:p.His496Tyr | |
| XM_011522364.1:c.1486C>T (CCDC78) | XP_011520666.1:p.His496Tyr | |
| XM_011522365.1:c.1273C>T (CCDC78) | XP_011520667.1:p.His425Tyr | |
| XM_011522366.1:c.1264C>T (CCDC78) | XP_011520668.1:p.His422Tyr | |
| XM_011522367.1:c.1105C>T (CCDC78) | XP_011520669.1:p.His369Tyr | |
| XM_011522368.1:c.1093C>T (CCDC78) | XP_011520670.1:p.His365Tyr | |
| XM_011522369.1:c.1051C>T (CCDC78) | XP_011520671.1:p.His351Tyr | |
| XM_011522370.1:c.883C>T (CCDC78) | XP_011520672.1:p.His295Tyr | |
| XM_011522371.1:c.598C>T (CCDC78) | XP_011520673.1:p.His200Tyr | |
| XM_006720843.4:c.1039C>T (CCDC78) | XP_006720906.1:p.His347Tyr | |
| XM_011522358.2:c.1486C>T (CCDC78) | XP_011520660.1:p.His496Tyr | |
| XM_011522371.2:c.598C>T (CCDC78) | XP_011520673.1:p.His200Tyr | |
| XM_017022929.1:c.1486C>T (CCDC78) | XP_016878418.1:p.His496Tyr | |
| XM_017022930.1:c.586C>T (CCDC78) | XP_016878419.1:p.His196Tyr | |
| XM_024450150.1:c.316C>T (CCDC78) | XP_024305918.1:p.His106Tyr | |
| XR_001751835.1:n.1825C>T (CCDC78) | ||
| XR_001751836.1:n.1804C>T (CCDC78) | ||
| XR_001751837.1:n.1582C>T (CCDC78) | ||
| XR_001751838.1:n.1928C>T (CCDC78) | ||
| XR_001751839.1:n.1390C>T (CCDC78) | ||
| NM_001031737.3:c.1039C>T (CCDC78) | NP_001026907.2:p.His347Tyr | |
| NM_001378030.1:c.1039C>T (CCDC78) MANE Select | NP_001364959.1:p.His347Tyr | |
| NM_001378031.1:c.953+202C>T (CCDC78) | NP_001364960.1:n.953+202C>T | |
| NM_001378033.1:c.472C>T (CCDC78) | NP_001364962.1:p.His158Tyr | |
| NR_165382.1:n.1596C>T (CCDC78) | ||
| NR_165383.1:n.1242C>T (CCDC78) | ||
| NR_165384.1:n.1207C>T (CCDC78) | ||
| NR_165385.1:n.1307C>T (CCDC78) | ||
| NR_165386.1:n.1374C>T (CCDC78) |