Canonical Allele Identifier: CA394098706

Linked Data

gnomAD v4: 16-724111-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724111C>G , CM000678.2:g.724111C>G GRCh38
NC_000016.9:g.774111C>G , CM000678.1:g.774111C>G GRCh37
NC_000016.8:g.714112C>G NCBI36
NG_032932.1:g.7363G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1591G>C (CCDC78)
ENST00000345165.10:c.1048G>C (CCDC78) MANE Select ENSP00000316851.5:p.Asp350His
ENST00000293889.10:c.1048G>C (CCDC78) ENSP00000293889.6:p.Asp350His
ENST00000345165.8:c.594G>C (CCDC78)
ENST00000463539.5:n.1370G>C (CCDC78)
ENST00000466708.5:n.1392G>C (CCDC78)
ENST00000478979.5:n.1526G>C (CCDC78)
ENST00000481804.5:n.2026G>C (CCDC78)
ENST00000482152.1:n.409G>C (CCDC78)
ENST00000482878.5:n.1929G>C (CCDC78)
ENST00000485091.5:n.1201G>C (CCDC78)
ENST00000620831.4:c.-49-38521C>G (MSLN) ENSP00000482893.1:n.-49-38521C>G
NM_001031737.2:c.1048G>C (CCDC78) NP_001026907.2:p.Asp350His
XM_006720838.1:c.1270G>C (CCDC78) XP_006720901.1:p.Asp424His
XM_006720843.2:c.1048G>C (CCDC78) XP_006720906.1:p.Asp350His
XM_011522356.1:c.1495G>C (CCDC78) XP_011520658.1:p.Asp499His
XM_011522357.1:c.1483G>C (CCDC78) XP_011520659.1:p.Asp495His
XM_011522358.1:c.1495G>C (CCDC78) XP_011520660.1:p.Asp499His
XM_011522359.1:c.1462G>C (CCDC78) XP_011520661.1:p.Asp488His
XM_011522360.1:c.1450G>C (CCDC78) XP_011520662.1:p.Asp484His
XM_011522361.1:c.1495G>C (CCDC78) XP_011520663.1:p.Asp499His
XM_011522362.1:c.1495G>C (CCDC78) XP_011520664.1:p.Asp499His
XM_011522363.1:c.1495G>C (CCDC78) XP_011520665.1:p.Asp499His
XM_011522364.1:c.1495G>C (CCDC78) XP_011520666.1:p.Asp499His
XM_011522365.1:c.1282G>C (CCDC78) XP_011520667.1:p.Asp428His
XM_011522366.1:c.1273G>C (CCDC78) XP_011520668.1:p.Asp425His
XM_011522367.1:c.1114G>C (CCDC78) XP_011520669.1:p.Asp372His
XM_011522368.1:c.1102G>C (CCDC78) XP_011520670.1:p.Asp368His
XM_011522369.1:c.1060G>C (CCDC78) XP_011520671.1:p.Asp354His
XM_011522370.1:c.892G>C (CCDC78) XP_011520672.1:p.Asp298His
XM_011522371.1:c.607G>C (CCDC78) XP_011520673.1:p.Asp203His
XM_006720843.4:c.1048G>C (CCDC78) XP_006720906.1:p.Asp350His
XM_011522358.2:c.1495G>C (CCDC78) XP_011520660.1:p.Asp499His
XM_011522371.2:c.607G>C (CCDC78) XP_011520673.1:p.Asp203His
XM_017022929.1:c.1495G>C (CCDC78) XP_016878418.1:p.Asp499His
XM_017022930.1:c.595G>C (CCDC78) XP_016878419.1:p.Asp199His
XM_024450150.1:c.325G>C (CCDC78) XP_024305918.1:p.Asp109His
XR_001751835.1:n.1834G>C (CCDC78)
XR_001751836.1:n.1813G>C (CCDC78)
XR_001751837.1:n.1591G>C (CCDC78)
XR_001751838.1:n.1937G>C (CCDC78)
XR_001751839.1:n.1399G>C (CCDC78)
NM_001031737.3:c.1048G>C (CCDC78) NP_001026907.2:p.Asp350His
NM_001378030.1:c.1048G>C (CCDC78) MANE Select NP_001364959.1:p.Asp350His
NM_001378031.1:c.953+211G>C (CCDC78) NP_001364960.1:n.953+211G>C
NM_001378033.1:c.481G>C (CCDC78) NP_001364962.1:p.Asp161His
NR_165382.1:n.1605G>C (CCDC78)
NR_165383.1:n.1251G>C (CCDC78)
NR_165384.1:n.1216G>C (CCDC78)
NR_165385.1:n.1316G>C (CCDC78)
NR_165386.1:n.1383G>C (CCDC78)