Canonical Allele Identifier: CA492830093

Linked Data

dbSNP Id: rs1455058251
gnomAD v2: 16-774118-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724118A>G , CM000678.2:g.724118A>G GRCh38
NC_000016.9:g.774118A>G , CM000678.1:g.774118A>G GRCh37
NC_000016.8:g.714119A>G NCBI36
NG_032932.1:g.7356T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1584T>C (CCDC78)
ENST00000345165.10:c.1041T>C (CCDC78) MANE Select ENSP00000316851.5:p.His347=
ENST00000293889.10:c.1041T>C (CCDC78) ENSP00000293889.6:p.His347=
ENST00000345165.8:c.587T>C (CCDC78)
ENST00000463539.5:n.1363T>C (CCDC78)
ENST00000466708.5:n.1385T>C (CCDC78)
ENST00000478979.5:n.1519T>C (CCDC78)
ENST00000481804.5:n.2019T>C (CCDC78)
ENST00000482152.1:n.402T>C (CCDC78)
ENST00000482878.5:n.1922T>C (CCDC78)
ENST00000485091.5:n.1194T>C (CCDC78)
ENST00000620831.4:c.-49-38514A>G (MSLN) ENSP00000482893.1:n.-49-38514A>G
NM_001031737.2:c.1041T>C (CCDC78) NP_001026907.2:p.His347=
XM_006720838.1:c.1263T>C (CCDC78) XP_006720901.1:p.His421=
XM_006720843.2:c.1041T>C (CCDC78) XP_006720906.1:p.His347=
XM_011522356.1:c.1488T>C (CCDC78) XP_011520658.1:p.His496=
XM_011522357.1:c.1476T>C (CCDC78) XP_011520659.1:p.His492=
XM_011522358.1:c.1488T>C (CCDC78) XP_011520660.1:p.His496=
XM_011522359.1:c.1455T>C (CCDC78) XP_011520661.1:p.His485=
XM_011522360.1:c.1443T>C (CCDC78) XP_011520662.1:p.His481=
XM_011522361.1:c.1488T>C (CCDC78) XP_011520663.1:p.His496=
XM_011522362.1:c.1488T>C (CCDC78) XP_011520664.1:p.His496=
XM_011522363.1:c.1488T>C (CCDC78) XP_011520665.1:p.His496=
XM_011522364.1:c.1488T>C (CCDC78) XP_011520666.1:p.His496=
XM_011522365.1:c.1275T>C (CCDC78) XP_011520667.1:p.His425=
XM_011522366.1:c.1266T>C (CCDC78) XP_011520668.1:p.His422=
XM_011522367.1:c.1107T>C (CCDC78) XP_011520669.1:p.His369=
XM_011522368.1:c.1095T>C (CCDC78) XP_011520670.1:p.His365=
XM_011522369.1:c.1053T>C (CCDC78) XP_011520671.1:p.His351=
XM_011522370.1:c.885T>C (CCDC78) XP_011520672.1:p.His295=
XM_011522371.1:c.600T>C (CCDC78) XP_011520673.1:p.His200=
XM_006720843.4:c.1041T>C (CCDC78) XP_006720906.1:p.His347=
XM_011522358.2:c.1488T>C (CCDC78) XP_011520660.1:p.His496=
XM_011522371.2:c.600T>C (CCDC78) XP_011520673.1:p.His200=
XM_017022929.1:c.1488T>C (CCDC78) XP_016878418.1:p.His496=
XM_017022930.1:c.588T>C (CCDC78) XP_016878419.1:p.His196=
XM_024450150.1:c.318T>C (CCDC78) XP_024305918.1:p.His106=
XR_001751835.1:n.1827T>C (CCDC78)
XR_001751836.1:n.1806T>C (CCDC78)
XR_001751837.1:n.1584T>C (CCDC78)
XR_001751838.1:n.1930T>C (CCDC78)
XR_001751839.1:n.1392T>C (CCDC78)
NM_001031737.3:c.1041T>C (CCDC78) NP_001026907.2:p.His347=
NM_001378030.1:c.1041T>C (CCDC78) MANE Select NP_001364959.1:p.His347=
NM_001378031.1:c.953+204T>C (CCDC78) NP_001364960.1:n.953+204T>C
NM_001378033.1:c.474T>C (CCDC78) NP_001364962.1:p.His158=
NR_165382.1:n.1598T>C (CCDC78)
NR_165383.1:n.1244T>C (CCDC78)
NR_165384.1:n.1209T>C (CCDC78)
NR_165385.1:n.1309T>C (CCDC78)
NR_165386.1:n.1376T>C (CCDC78)