Canonical Allele Identifier: CA2630855254

Linked Data

gnomAD v4: 16-723714-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723714T>C , CM000678.2:g.723714T>C GRCh38
NC_000016.9:g.773714T>C , CM000678.1:g.773714T>C GRCh37
NC_000016.8:g.713715T>C NCBI36
NG_032932.1:g.7760A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1676+143A>G (CCDC78)
ENST00000345165.10:c.1133+143A>G (CCDC78) MANE Select ENSP00000316851.5:n.1133+143A>G
ENST00000293889.10:c.1133+143A>G (CCDC78) ENSP00000293889.6:n.1133+143A>G
ENST00000345165.8:c.679+143A>G (CCDC78)
ENST00000463539.5:n.1455+143A>G (CCDC78)
ENST00000466708.5:n.1477+143A>G (CCDC78)
ENST00000478979.5:n.1923A>G (CCDC78)
ENST00000481804.5:n.2254A>G (CCDC78)
ENST00000482152.1:n.494+143A>G (CCDC78)
ENST00000482878.5:n.2326A>G (CCDC78)
ENST00000485091.5:n.1286+143A>G (CCDC78)
ENST00000620831.4:c.-49-38918T>C (MSLN) ENSP00000482893.1:n.-49-38918T>C
NM_001031737.2:c.1133+143A>G (CCDC78) NP_001026907.2:n.1133+143A>G
XM_006720838.1:c.1355+143A>G (CCDC78) XP_006720901.1:n.1355+143A>G
XM_006720843.2:c.1133+143A>G (CCDC78) XP_006720906.1:n.1133+143A>G
XM_011522356.1:c.1580+143A>G (CCDC78) XP_011520658.1:n.1580+143A>G
XM_011522357.1:c.1568+143A>G (CCDC78) XP_011520659.1:n.1568+143A>G
XM_011522358.1:c.1580+143A>G (CCDC78) XP_011520660.1:n.1580+143A>G
XM_011522359.1:c.1547+143A>G (CCDC78) XP_011520661.1:n.1547+143A>G
XM_011522360.1:c.1535+143A>G (CCDC78) XP_011520662.1:n.1535+143A>G
XM_011522361.1:c.1580+143A>G (CCDC78) XP_011520663.1:n.1580+143A>G
XM_011522362.1:c.1580+143A>G (CCDC78) XP_011520664.1:n.1580+143A>G
XM_011522363.1:c.1580+143A>G (CCDC78) XP_011520665.1:n.1580+143A>G
XM_011522364.1:c.1580+143A>G (CCDC78) XP_011520666.1:n.1580+143A>G
XM_011522365.1:c.1367+143A>G (CCDC78) XP_011520667.1:n.1367+143A>G
XM_011522366.1:c.1358+143A>G (CCDC78) XP_011520668.1:n.1358+143A>G
XM_011522367.1:c.1199+143A>G (CCDC78) XP_011520669.1:n.1199+143A>G
XM_011522368.1:c.1187+143A>G (CCDC78) XP_011520670.1:n.1187+143A>G
XM_011522369.1:c.1145+143A>G (CCDC78) XP_011520671.1:n.1145+143A>G
XM_011522370.1:c.977+143A>G (CCDC78) XP_011520672.1:n.977+143A>G
XM_011522371.1:c.692+143A>G (CCDC78) XP_011520673.1:n.692+143A>G
XM_006720843.4:c.1133+143A>G (CCDC78) XP_006720906.1:n.1133+143A>G
XM_011522358.2:c.1580+143A>G (CCDC78) XP_011520660.1:n.1580+143A>G
XM_011522371.2:c.692+143A>G (CCDC78) XP_011520673.1:n.692+143A>G
XM_017022929.1:c.1580+143A>G (CCDC78) XP_016878418.1:n.1580+143A>G
XM_017022930.1:c.680+143A>G (CCDC78) XP_016878419.1:n.680+143A>G
XM_017022931.1:c.23A>G (CCDC78) XP_016878420.1:p.His8Arg
XM_024450150.1:c.410+143A>G (CCDC78) XP_024305918.1:n.410+143A>G
XR_001751835.1:n.1919+143A>G (CCDC78)
XR_001751836.1:n.1898+143A>G (CCDC78)
XR_001751837.1:n.1676+143A>G (CCDC78)
XR_001751838.1:n.2022+143A>G (CCDC78)
XR_001751839.1:n.1484+143A>G (CCDC78)
NM_001031737.3:c.1133+143A>G (CCDC78) NP_001026907.2:n.1133+143A>G
NM_001378030.1:c.1133+143A>G (CCDC78) MANE Select NP_001364959.1:n.1133+143A>G
NM_001378031.1:c.954-553A>G (CCDC78) NP_001364960.1:n.954-553A>G
NM_001378033.1:c.566+143A>G (CCDC78) NP_001364962.1:n.566+143A>G
NR_165382.1:n.1690+143A>G (CCDC78)
NR_165383.1:n.1336+143A>G (CCDC78)
NR_165384.1:n.1301+143A>G (CCDC78)
NR_165385.1:n.1401+143A>G (CCDC78)
NR_165386.1:n.1468+143A>G (CCDC78)