Canonical Allele Identifier: CA3814052
Gene: CUL7 HGNC NCBI

Linked Data

ClinVar Variation Id: 356844
dbSNP Id: rs7774330

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43048549T>C , CM000668.2:g.43048549T>C GRCh38
NC_000006.11:g.43016287T>C , CM000668.1:g.43016287T>C GRCh37
NC_000006.10:g.43124265T>C NCBI36
NG_016205.1:g.10397A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265348.9:c.1846A>G MANE Select ENSP00000265348.4:p.Ser616Gly
ENST00000673753.1:n.2180A>G
ENST00000674100.1:c.1942A>G ENSP00000501292.1:p.Ser648Gly
ENST00000674112.1:n.338A>G
ENST00000674134.1:c.1942A>G ENSP00000501068.1:p.Ser648Gly
ENST00000265348.7:c.1846A>G ENSP00000265348.3:p.Ser616Gly
ENST00000467906.5:c.-553+5041T>C ENSP00000418759.1:p.=
ENST00000535468.1:c.2098A>G ENSP00000438788.1:p.Ser700Gly
NM_001168370.1:c.2098A>G NP_001161842.1:p.Ser700Gly
NM_014780.4:c.1846A>G NP_055595.2:p.Ser616Gly
XM_005249503.1:c.2002A>G XP_005249560.1:p.Ser668Gly
XM_006715285.1:c.1942A>G XP_006715348.1:p.Ser648Gly
XM_011515019.1:c.2098A>G XP_011513321.1:p.Ser700Gly
XM_011515020.1:c.2002A>G XP_011513322.1:p.Ser668Gly
XM_011515021.1:c.-337A>G XP_011513323.1:p.=
XM_005249503.3:c.2002A>G XP_005249560.1:p.Ser668Gly
XM_006715285.2:c.1942A>G XP_006715348.1:p.Ser648Gly
XM_011515019.2:c.2098A>G XP_011513321.1:p.Ser700Gly
XM_011515020.2:c.2002A>G XP_011513322.1:p.Ser668Gly
XM_017011533.1:c.2125A>G XP_016867022.1:p.Ser709Gly
XM_017011534.1:c.2125A>G XP_016867023.1:p.Ser709Gly
XM_017011535.1:c.2029A>G XP_016867024.1:p.Ser677Gly
XM_017011536.2:c.1969A>G XP_016867025.1:p.Ser657Gly
XM_017011537.2:c.1942A>G XP_016867026.1:p.Ser648Gly
XM_017011538.2:c.1873A>G XP_016867027.1:p.Ser625Gly
XM_017011539.2:c.1846A>G XP_016867028.1:p.Ser616Gly
XM_017011540.1:c.2125A>G XP_016867029.1:p.Ser709Gly
NM_001168370.2:c.1942A>G NP_001161842.2:p.Ser648Gly
NM_001374872.1:c.1942A>G NP_001361801.1:p.Ser648Gly
NM_001374873.1:c.1846A>G NP_001361802.1:p.Ser616Gly
NM_001374874.1:c.1846A>G NP_001361803.1:p.Ser616Gly
NM_014780.5:c.1846A>G MANE Select NP_055595.2:p.Ser616Gly