Canonical Allele Identifier: CA16618289

Linked Data

ClinVar Variation Id: 418150
ClinVar RCV Id: RCV000484727
dbSNP Id: rs1064793092
gnomAD v4: 6-43043100-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43043100A>G , CM000668.2:g.43043100A>G GRCh38
NC_000006.11:g.43010838A>G , CM000668.1:g.43010838A>G GRCh37
NC_000006.10:g.43118816A>G NCBI36
NG_016205.1:g.15846T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000478630.2:n.1507T>C (CUL7)
ENST00000674112.2:c.3436T>C (CUL7) ENSP00000501166.2:p.Cys1146Arg
ENST00000685042.1:c.*92T>C (CUL7) ENSP00000509871.1:n.*92T>C
ENST00000686442.1:n.3997T>C (CUL7)
ENST00000687225.1:c.*1733T>C (CUL7) ENSP00000509364.1:n.*1733T>C
ENST00000688302.1:n.3719T>C (CUL7)
ENST00000689256.1:n.4013T>C (CUL7)
ENST00000690231.1:c.3436T>C (CUL7) ENSP00000508461.1:p.Cys1146Arg
ENST00000265348.9:c.3436T>C (CUL7) MANE Select ENSP00000265348.4:p.Cys1146Arg
ENST00000673725.1:c.1385T>C (CUL7)
ENST00000673753.1:n.4275T>C (CUL7)
ENST00000674100.1:c.3532T>C (CUL7) ENSP00000501292.1:p.Cys1178Arg
ENST00000674112.1:c.1928T>C (CUL7)
ENST00000674134.1:c.3532T>C (CUL7) ENSP00000501068.1:p.Cys1178Arg
ENST00000265348.7:c.3436T>C (CUL7) ENSP00000265348.3:p.Cys1146Arg
ENST00000467906.5:c.-961A>G (KLC4) ENSP00000418759.1:n.-961A>G
ENST00000535468.1:c.3688T>C (CUL7) ENSP00000438788.1:p.Cys1230Arg
NM_001168370.1:c.3688T>C (CUL7) NP_001161842.1:p.Cys1230Arg
NM_014780.4:c.3436T>C (CUL7) NP_055595.2:p.Cys1146Arg
XM_005249503.1:c.3592T>C (CUL7) XP_005249560.1:p.Cys1198Arg
XM_006715285.1:c.3532T>C (CUL7) XP_006715348.1:p.Cys1178Arg
XM_011515019.1:c.3688T>C (CUL7) XP_011513321.1:p.Cys1230Arg
XM_011515020.1:c.3592T>C (CUL7) XP_011513322.1:p.Cys1198Arg
XM_011515021.1:c.1297T>C (CUL7) XP_011513323.1:p.Cys433Arg
XM_005249503.3:c.3592T>C (CUL7) XP_005249560.1:p.Cys1198Arg
XM_006715285.2:c.3532T>C (CUL7) XP_006715348.1:p.Cys1178Arg
XM_011515019.2:c.3688T>C (CUL7) XP_011513321.1:p.Cys1230Arg
XM_011515020.2:c.3592T>C (CUL7) XP_011513322.1:p.Cys1198Arg
XM_017011533.1:c.3715T>C (CUL7) XP_016867022.1:p.Cys1239Arg
XM_017011534.1:c.3715T>C (CUL7) XP_016867023.1:p.Cys1239Arg
XM_017011535.1:c.3619T>C (CUL7) XP_016867024.1:p.Cys1207Arg
XM_017011536.2:c.3559T>C (CUL7) XP_016867025.1:p.Cys1187Arg
XM_017011537.2:c.3532T>C (CUL7) XP_016867026.1:p.Cys1178Arg
XM_017011538.2:c.3463T>C (CUL7) XP_016867027.1:p.Cys1155Arg
XM_017011539.2:c.3436T>C (CUL7) XP_016867028.1:p.Cys1146Arg
NM_001168370.2:c.3532T>C (CUL7) NP_001161842.2:p.Cys1178Arg
NM_001374872.1:c.3532T>C (CUL7) NP_001361801.1:p.Cys1178Arg
NM_001374873.1:c.3436T>C (CUL7) NP_001361802.1:p.Cys1146Arg
NM_001374874.1:c.3433T>C (CUL7) NP_001361803.1:p.Cys1145Arg
NM_014780.5:c.3436T>C (CUL7) MANE Select NP_055595.2:p.Cys1146Arg