Canonical Allele Identifier: CA394098664

Linked Data

gnomAD v4: 16-724106-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724106C>A , CM000678.2:g.724106C>A GRCh38
NC_000016.9:g.774106C>A , CM000678.1:g.774106C>A GRCh37
NC_000016.8:g.714107C>A NCBI36
NG_032932.1:g.7368G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1596G>T (CCDC78)
ENST00000345165.10:c.1053G>T (CCDC78) MANE Select ENSP00000316851.5:p.Gln351His
ENST00000293889.10:c.1053G>T (CCDC78) ENSP00000293889.6:p.Gln351His
ENST00000345165.8:c.599G>T (CCDC78)
ENST00000463539.5:n.1375G>T (CCDC78)
ENST00000466708.5:n.1397G>T (CCDC78)
ENST00000478979.5:n.1531G>T (CCDC78)
ENST00000481804.5:n.2031G>T (CCDC78)
ENST00000482152.1:n.414G>T (CCDC78)
ENST00000482878.5:n.1934G>T (CCDC78)
ENST00000485091.5:n.1206G>T (CCDC78)
ENST00000620831.4:c.-49-38526C>A (MSLN) ENSP00000482893.1:n.-49-38526C>A
NM_001031737.2:c.1053G>T (CCDC78) NP_001026907.2:p.Gln351His
XM_006720838.1:c.1275G>T (CCDC78) XP_006720901.1:p.Gln425His
XM_006720843.2:c.1053G>T (CCDC78) XP_006720906.1:p.Gln351His
XM_011522356.1:c.1500G>T (CCDC78) XP_011520658.1:p.Gln500His
XM_011522357.1:c.1488G>T (CCDC78) XP_011520659.1:p.Gln496His
XM_011522358.1:c.1500G>T (CCDC78) XP_011520660.1:p.Gln500His
XM_011522359.1:c.1467G>T (CCDC78) XP_011520661.1:p.Gln489His
XM_011522360.1:c.1455G>T (CCDC78) XP_011520662.1:p.Gln485His
XM_011522361.1:c.1500G>T (CCDC78) XP_011520663.1:p.Gln500His
XM_011522362.1:c.1500G>T (CCDC78) XP_011520664.1:p.Gln500His
XM_011522363.1:c.1500G>T (CCDC78) XP_011520665.1:p.Gln500His
XM_011522364.1:c.1500G>T (CCDC78) XP_011520666.1:p.Gln500His
XM_011522365.1:c.1287G>T (CCDC78) XP_011520667.1:p.Gln429His
XM_011522366.1:c.1278G>T (CCDC78) XP_011520668.1:p.Gln426His
XM_011522367.1:c.1119G>T (CCDC78) XP_011520669.1:p.Gln373His
XM_011522368.1:c.1107G>T (CCDC78) XP_011520670.1:p.Gln369His
XM_011522369.1:c.1065G>T (CCDC78) XP_011520671.1:p.Gln355His
XM_011522370.1:c.897G>T (CCDC78) XP_011520672.1:p.Gln299His
XM_011522371.1:c.612G>T (CCDC78) XP_011520673.1:p.Gln204His
XM_006720843.4:c.1053G>T (CCDC78) XP_006720906.1:p.Gln351His
XM_011522358.2:c.1500G>T (CCDC78) XP_011520660.1:p.Gln500His
XM_011522371.2:c.612G>T (CCDC78) XP_011520673.1:p.Gln204His
XM_017022929.1:c.1500G>T (CCDC78) XP_016878418.1:p.Gln500His
XM_017022930.1:c.600G>T (CCDC78) XP_016878419.1:p.Gln200His
XM_024450150.1:c.330G>T (CCDC78) XP_024305918.1:p.Gln110His
XR_001751835.1:n.1839G>T (CCDC78)
XR_001751836.1:n.1818G>T (CCDC78)
XR_001751837.1:n.1596G>T (CCDC78)
XR_001751838.1:n.1942G>T (CCDC78)
XR_001751839.1:n.1404G>T (CCDC78)
NM_001031737.3:c.1053G>T (CCDC78) NP_001026907.2:p.Gln351His
NM_001378030.1:c.1053G>T (CCDC78) MANE Select NP_001364959.1:p.Gln351His
NM_001378031.1:c.953+216G>T (CCDC78) NP_001364960.1:n.953+216G>T
NM_001378033.1:c.486G>T (CCDC78) NP_001364962.1:p.Gln162His
NR_165382.1:n.1610G>T (CCDC78)
NR_165383.1:n.1256G>T (CCDC78)
NR_165384.1:n.1221G>T (CCDC78)
NR_165385.1:n.1321G>T (CCDC78)
NR_165386.1:n.1388G>T (CCDC78)