Canonical Allele Identifier: CA551802
Gene: CEP104 HGNC NCBI

Linked Data

ClinVar Variation Id: 2041302
ClinVar RCV Id: RCV002891053
dbSNP Id: rs139901107
gnomAD v2: 1-3755581-G-A
gnomAD v3: 1-3839017-G-A
gnomAD v4: 1-3839017-G-A
COSMIC: COSM107868

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.3839017G>A , CM000663.2:g.3839017G>A GRCh38
NC_000001.10:g.3755581G>A , CM000663.1:g.3755581G>A GRCh37
NC_000001.9:g.3745441G>A NCBI36
NG_046726.1:g.23217C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378230.8:c.838C>T MANE Select ENSP00000367476.3:p.Arg280Cys
ENST00000428079.6:c.838C>T ENSP00000394989.2:p.Arg280Cys
ENST00000461667.2:c.838C>T ENSP00000463605.2:p.Arg280Cys
ENST00000674544.1:c.664C>T ENSP00000502641.1:p.Arg222Cys
ENST00000674558.1:c.838C>T ENSP00000501829.1:p.Arg280Cys
ENST00000674623.1:c.838C>T ENSP00000501733.1:p.Arg280Cys
ENST00000674879.1:n.1175C>T
ENST00000674985.1:c.838C>T ENSP00000502482.1:p.Arg280Cys
ENST00000675108.1:c.*754C>T ENSP00000502131.1:n.*754C>T
ENST00000675200.1:c.838C>T ENSP00000502512.1:p.Arg280Cys
ENST00000675334.1:n.642C>T
ENST00000675375.1:c.838C>T ENSP00000502180.1:p.Arg280Cys
ENST00000675520.1:n.1175C>T
ENST00000675666.1:c.838C>T ENSP00000502548.1:p.Arg280Cys
ENST00000675677.1:c.838C>T ENSP00000501944.1:p.Arg280Cys
ENST00000675750.1:c.*341C>T ENSP00000502342.1:n.*341C>T
ENST00000675966.1:n.1066C>T
ENST00000676009.1:c.838C>T ENSP00000502246.1:p.Arg280Cys
ENST00000676052.1:c.856C>T ENSP00000502793.1:p.Arg286Cys
ENST00000378230.7:c.838C>T ENSP00000367476.3:p.Arg280Cys
ENST00000443466.1:c.94C>T ENSP00000411927.1:p.Arg32Cys
ENST00000494653.5:n.1162C>T
NM_014704.3:c.838C>T NP_055519.1:p.Arg280Cys
XM_005244815.3:c.946C>T XP_005244872.1:p.Arg316Cys
XM_011542473.1:c.964C>T XP_011540775.1:p.Arg322Cys
XM_011542474.1:c.856C>T XP_011540776.1:p.Arg286Cys
XM_011542475.1:c.964C>T XP_011540777.1:p.Arg322Cys
XM_011542476.1:c.964C>T XP_011540778.1:p.Arg322Cys
XM_011542477.1:c.964C>T XP_011540779.1:p.Arg322Cys
XM_011542478.1:c.964C>T XP_011540780.1:p.Arg322Cys
XM_005244815.4:c.946C>T XP_005244872.1:p.Arg316Cys
XM_011542474.3:c.856C>T XP_011540776.1:p.Arg286Cys
XM_017002918.2:c.838C>T XP_016858407.1:p.Arg280Cys
XM_017002919.2:c.838C>T XP_016858408.1:p.Arg280Cys
XM_024451101.1:c.964C>T XP_024306869.1:p.Arg322Cys
XM_024451102.1:c.964C>T XP_024306870.1:p.Arg322Cys
XM_024451103.1:c.946C>T XP_024306871.1:p.Arg316Cys
XM_024451104.1:c.964C>T XP_024306872.1:p.Arg322Cys
XM_024451106.1:c.964C>T XP_024306874.1:p.Arg322Cys
XM_024451108.1:c.964C>T XP_024306876.1:p.Arg322Cys
NM_014704.4:c.838C>T MANE Select NP_055519.1:p.Arg280Cys