Linked Data
ClinVar Variation Id:
473258
dbSNP Id:
rs201924732
ExAC:
16:775480 C / T
gnomAD v2:
16-775480-C-T
gnomAD v3:
16-725480-C-T
gnomAD v4:
16-725480-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.725480C>T , CM000678.2:g.725480C>T | GRCh38 |
| NC_000016.9:g.775480C>T , CM000678.1:g.775480C>T | GRCh37 |
| NC_000016.8:g.715481C>T | NCBI36 |
| NG_032932.1:g.5994G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423653.6:n.413G>A (CCDC78) | ||
| ENST00000682391.1:n.457G>A (CCDC78) | ||
| ENST00000345165.10:c.368G>A (CCDC78) MANE Select | ENSP00000316851.5:p.Arg123Gln | |
| ENST00000293889.10:c.368G>A (CCDC78) | ENSP00000293889.6:p.Arg123Gln | |
| ENST00000423653.5:c.-86G>A (CCDC78) | ENSP00000458590.1:n.-86G>A | |
| ENST00000439619.6:n.445G>A (CCDC78) | ||
| ENST00000460023.5:n.368G>A (CCDC78) | ||
| ENST00000463539.5:n.431G>A (CCDC78) | ||
| ENST00000466708.5:n.574G>A (CCDC78) | ||
| ENST00000471861.5:n.474G>A (CCDC78) | ||
| ENST00000474647.1:n.336-187G>A (CCDC78) | ||
| ENST00000478979.5:n.344-187G>A (CCDC78) | ||
| ENST00000481804.5:n.657G>A (CCDC78) | ||
| ENST00000482878.5:n.679G>A (CCDC78) | ||
| ENST00000485091.5:n.430G>A (CCDC78) | ||
| ENST00000538176.5:n.438G>A (CCDC78) | ||
| ENST00000544996.1:n.174G>A (CCDC78) | ||
| ENST00000620831.4:c.-49-37152C>T (MSLN) | ENSP00000482893.1:n.-49-37152C>T | |
| NM_001031737.2:c.368G>A (CCDC78) | NP_001026907.2:p.Arg123Gln | |
| XM_005255106.3:c.368G>A (CCDC78) | XP_005255163.1:p.Arg123Gln | |
| XM_006720838.1:c.590G>A (CCDC78) | XP_006720901.1:p.Arg197Gln | |
| XM_006720843.2:c.368G>A (CCDC78) | XP_006720906.1:p.Arg123Gln | |
| XM_011522356.1:c.803G>A (CCDC78) | XP_011520658.1:p.Arg268Gln | |
| XM_011522357.1:c.803G>A (CCDC78) | XP_011520659.1:p.Arg268Gln | |
| XM_011522358.1:c.803G>A (CCDC78) | XP_011520660.1:p.Arg268Gln | |
| XM_011522359.1:c.803G>A (CCDC78) | XP_011520661.1:p.Arg268Gln | |
| XM_011522360.1:c.803G>A (CCDC78) | XP_011520662.1:p.Arg268Gln | |
| XM_011522361.1:c.803G>A (CCDC78) | XP_011520663.1:p.Arg268Gln | |
| XM_011522362.1:c.803G>A (CCDC78) | XP_011520664.1:p.Arg268Gln | |
| XM_011522363.1:c.803G>A (CCDC78) | XP_011520665.1:p.Arg268Gln | |
| XM_011522364.1:c.803G>A (CCDC78) | XP_011520666.1:p.Arg268Gln | |
| XM_011522365.1:c.590G>A (CCDC78) | XP_011520667.1:p.Arg197Gln | |
| XM_011522366.1:c.581G>A (CCDC78) | XP_011520668.1:p.Arg194Gln | |
| XM_011522367.1:c.490-187G>A (CCDC78) | XP_011520669.1:n.490-187G>A | |
| XM_011522368.1:c.490-187G>A (CCDC78) | XP_011520670.1:n.490-187G>A | |
| XM_011522369.1:c.368G>A (CCDC78) | XP_011520671.1:p.Arg123Gln | |
| XM_011522370.1:c.268-187G>A (CCDC78) | XP_011520672.1:n.268-187G>A | |
| XM_011522371.1:c.-18-187G>A (CCDC78) | XP_011520673.1:n.-18-187G>A | |
| XM_006720843.4:c.368G>A (CCDC78) | XP_006720906.1:p.Arg123Gln | |
| XM_011522358.2:c.803G>A (CCDC78) | XP_011520660.1:p.Arg268Gln | |
| XM_011522371.2:c.-18-187G>A (CCDC78) | XP_011520673.1:n.-18-187G>A | |
| XM_017022929.1:c.803G>A (CCDC78) | XP_016878418.1:p.Arg268Gln | |
| XM_017022930.1:c.-86G>A (CCDC78) | XP_016878419.1:n.-86G>A | |
| XR_001751835.1:n.892G>A (CCDC78) | ||
| XR_001751836.1:n.679G>A (CCDC78) | ||
| XR_001751837.1:n.457G>A (CCDC78) | ||
| XR_001751838.1:n.836G>A (CCDC78) | ||
| XR_001751839.1:n.457G>A (CCDC78) | ||
| NM_001031737.3:c.368G>A (CCDC78) | NP_001026907.2:p.Arg123Gln | |
| NM_001378030.1:c.368G>A (CCDC78) MANE Select | NP_001364959.1:p.Arg123Gln | |
| NM_001378031.1:c.368G>A (CCDC78) | NP_001364960.1:p.Arg123Gln | |
| NM_001378033.1:c.-18-187G>A (CCDC78) | NP_001364962.1:n.-18-187G>A | |
| NR_165382.1:n.666G>A (CCDC78) | ||
| NR_165383.1:n.400G>A (CCDC78) | ||
| NR_165384.1:n.400G>A (CCDC78) | ||
| NR_165385.1:n.444G>A (CCDC78) | ||
| NR_165386.1:n.444G>A (CCDC78) |