Canonical Allele Identifier: CA241667
Gene: CUL7 HGNC NCBI

Linked Data

ClinVar Variation Id: 195300
ClinVar RCV Id: RCV000175863
dbSNP Id: rs141692693

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43052653G>A , CM000668.2:g.43052653G>A GRCh38
NC_000006.11:g.43020391G>A , CM000668.1:g.43020391G>A GRCh37
NC_000006.10:g.43128369G>A NCBI36
NG_016205.1:g.6293C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265348.9:c.136C>T MANE Select ENSP00000265348.4:p.Arg46Trp
ENST00000673753.1:n.374C>T
ENST00000673761.1:n.777C>T ENSP00000501018.1:p.=
ENST00000674100.1:c.136C>T ENSP00000501292.1:p.Arg46Trp
ENST00000674134.1:c.136C>T ENSP00000501068.1:p.Arg46Trp
ENST00000265348.7:c.136C>T ENSP00000265348.3:p.Arg46Trp
ENST00000467906.5:c.-552-6373G>A ENSP00000418759.1:p.=
ENST00000535468.1:c.292C>T ENSP00000438788.1:p.Arg98Trp
NM_001168370.1:c.292C>T NP_001161842.1:p.Arg98Trp
NM_014780.4:c.136C>T NP_055595.2:p.Arg46Trp
XM_005249503.1:c.292C>T XP_005249560.1:p.Arg98Trp
XM_006715285.1:c.136C>T XP_006715348.1:p.Arg46Trp
XM_011515019.1:c.292C>T XP_011513321.1:p.Arg98Trp
XM_011515020.1:c.292C>T XP_011513322.1:p.Arg98Trp
XM_005249503.3:c.292C>T XP_005249560.1:p.Arg98Trp
XM_006715285.2:c.136C>T XP_006715348.1:p.Arg46Trp
XM_011515019.2:c.292C>T XP_011513321.1:p.Arg98Trp
XM_011515020.2:c.292C>T XP_011513322.1:p.Arg98Trp
XM_017011533.1:c.292C>T XP_016867022.1:p.Arg98Trp
XM_017011534.1:c.292C>T XP_016867023.1:p.Arg98Trp
XM_017011535.1:c.292C>T XP_016867024.1:p.Arg98Trp
XM_017011536.2:c.136C>T XP_016867025.1:p.Arg46Trp
XM_017011537.2:c.136C>T XP_016867026.1:p.Arg46Trp
XM_017011538.2:c.136C>T XP_016867027.1:p.Arg46Trp
XM_017011539.2:c.136C>T XP_016867028.1:p.Arg46Trp
XM_017011540.1:c.292C>T XP_016867029.1:p.Arg98Trp
NM_001168370.2:c.136C>T NP_001161842.2:p.Arg46Trp
NM_001374872.1:c.136C>T NP_001361801.1:p.Arg46Trp
NM_001374873.1:c.136C>T NP_001361802.1:p.Arg46Trp
NM_001374874.1:c.136C>T NP_001361803.1:p.Arg46Trp
NM_014780.5:c.136C>T MANE Select NP_055595.2:p.Arg46Trp