Canonical Allele Identifier: CA7789276

Linked Data

ClinVar Variation Id: 1629375
ClinVar RCV Id: RCV002116675
dbSNP Id: rs575159946
gnomAD v2: 16-773950-T-C
gnomAD v3: 16-723950-T-C
gnomAD v4: 16-723950-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723950T>C , CM000678.2:g.723950T>C GRCh38
NC_000016.9:g.773950T>C , CM000678.1:g.773950T>C GRCh37
NC_000016.8:g.713951T>C NCBI36
NG_032932.1:g.7524A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1597-14A>G (CCDC78)
ENST00000345165.10:c.1054-14A>G (CCDC78) MANE Select ENSP00000316851.5:n.1054-14A>G
ENST00000293889.10:c.1054-14A>G (CCDC78) ENSP00000293889.6:n.1054-14A>G
ENST00000345165.8:c.600-14A>G (CCDC78)
ENST00000463539.5:n.1376-14A>G (CCDC78)
ENST00000466708.5:n.1398-14A>G (CCDC78)
ENST00000478979.5:n.1687A>G (CCDC78)
ENST00000481804.5:n.2032-14A>G (CCDC78)
ENST00000482152.1:n.415-14A>G (CCDC78)
ENST00000482878.5:n.2090A>G (CCDC78)
ENST00000485091.5:n.1207-14A>G (CCDC78)
ENST00000620831.4:c.-49-38682T>C (MSLN) ENSP00000482893.1:n.-49-38682T>C
NM_001031737.2:c.1054-14A>G (CCDC78) NP_001026907.2:n.1054-14A>G
XM_006720838.1:c.1276-14A>G (CCDC78) XP_006720901.1:n.1276-14A>G
XM_006720843.2:c.1054-14A>G (CCDC78) XP_006720906.1:n.1054-14A>G
XM_011522356.1:c.1501-14A>G (CCDC78) XP_011520658.1:n.1501-14A>G
XM_011522357.1:c.1489-14A>G (CCDC78) XP_011520659.1:n.1489-14A>G
XM_011522358.1:c.1501-14A>G (CCDC78) XP_011520660.1:n.1501-14A>G
XM_011522359.1:c.1468-14A>G (CCDC78) XP_011520661.1:n.1468-14A>G
XM_011522360.1:c.1456-14A>G (CCDC78) XP_011520662.1:n.1456-14A>G
XM_011522361.1:c.1501-14A>G (CCDC78) XP_011520663.1:n.1501-14A>G
XM_011522362.1:c.1501-14A>G (CCDC78) XP_011520664.1:n.1501-14A>G
XM_011522363.1:c.1501-14A>G (CCDC78) XP_011520665.1:n.1501-14A>G
XM_011522364.1:c.1501-14A>G (CCDC78) XP_011520666.1:n.1501-14A>G
XM_011522365.1:c.1288-14A>G (CCDC78) XP_011520667.1:n.1288-14A>G
XM_011522366.1:c.1279-14A>G (CCDC78) XP_011520668.1:n.1279-14A>G
XM_011522367.1:c.1120-14A>G (CCDC78) XP_011520669.1:n.1120-14A>G
XM_011522368.1:c.1108-14A>G (CCDC78) XP_011520670.1:n.1108-14A>G
XM_011522369.1:c.1066-14A>G (CCDC78) XP_011520671.1:n.1066-14A>G
XM_011522370.1:c.898-14A>G (CCDC78) XP_011520672.1:n.898-14A>G
XM_011522371.1:c.613-14A>G (CCDC78) XP_011520673.1:n.613-14A>G
XM_006720843.4:c.1054-14A>G (CCDC78) XP_006720906.1:n.1054-14A>G
XM_011522358.2:c.1501-14A>G (CCDC78) XP_011520660.1:n.1501-14A>G
XM_011522371.2:c.613-14A>G (CCDC78) XP_011520673.1:n.613-14A>G
XM_017022929.1:c.1501-14A>G (CCDC78) XP_016878418.1:n.1501-14A>G
XM_017022930.1:c.601-14A>G (CCDC78) XP_016878419.1:n.601-14A>G
XM_017022931.1:c.-214A>G (CCDC78) XP_016878420.1:n.-214A>G
XM_024450150.1:c.331-14A>G (CCDC78) XP_024305918.1:n.331-14A>G
XR_001751835.1:n.1840-14A>G (CCDC78)
XR_001751836.1:n.1819-14A>G (CCDC78)
XR_001751837.1:n.1597-14A>G (CCDC78)
XR_001751838.1:n.1943-14A>G (CCDC78)
XR_001751839.1:n.1405-14A>G (CCDC78)
NM_001031737.3:c.1054-14A>G (CCDC78) NP_001026907.2:n.1054-14A>G
NM_001378030.1:c.1054-14A>G (CCDC78) MANE Select NP_001364959.1:n.1054-14A>G
NM_001378031.1:c.953+372A>G (CCDC78) NP_001364960.1:n.953+372A>G
NM_001378033.1:c.487-14A>G (CCDC78) NP_001364962.1:n.487-14A>G
NR_165382.1:n.1611-14A>G (CCDC78)
NR_165383.1:n.1257-14A>G (CCDC78)
NR_165384.1:n.1222-14A>G (CCDC78)
NR_165385.1:n.1322-14A>G (CCDC78)
NR_165386.1:n.1389-14A>G (CCDC78)