Canonical Allele Identifier: CA3813775

Linked Data

ClinVar Variation Id: 290744
ClinVar RCV Id: RCV000401634
dbSNP Id: rs45574335
gnomAD v2: 6-43013989-C-T
gnomAD v3: 6-43046251-C-T
gnomAD v4: 6-43046251-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43046251C>T , CM000668.2:g.43046251C>T GRCh38
NC_000006.11:g.43013989C>T , CM000668.1:g.43013989C>T GRCh37
NC_000006.10:g.43121967C>T NCBI36
NG_016205.1:g.12695G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000478630.2:n.532G>A (CUL7)
ENST00000674112.2:c.2645G>A (CUL7) ENSP00000501166.2:p.Arg882Gln
ENST00000685042.1:c.2645G>A (CUL7) ENSP00000509871.1:p.Arg882Gln
ENST00000686442.1:n.3206G>A (CUL7)
ENST00000687225.1:c.*758G>A (CUL7) ENSP00000509364.1:n.*758G>A
ENST00000688302.1:n.2928G>A (CUL7)
ENST00000689256.1:n.3222G>A (CUL7)
ENST00000690231.1:c.2645G>A (CUL7) ENSP00000508461.1:p.Arg882Gln
ENST00000265348.9:c.2645G>A (CUL7) MANE Select ENSP00000265348.4:p.Arg882Gln
ENST00000673725.1:c.594G>A (CUL7)
ENST00000673753.1:n.3300G>A (CUL7)
ENST00000674100.1:c.2741G>A (CUL7) ENSP00000501292.1:p.Arg914Gln
ENST00000674112.1:c.1137G>A (CUL7)
ENST00000674134.1:c.2741G>A (CUL7) ENSP00000501068.1:p.Arg914Gln
ENST00000265348.7:c.2645G>A (CUL7) ENSP00000265348.3:p.Arg882Gln
ENST00000467906.5:c.-553+2743C>T (KLC4) ENSP00000418759.1:n.-553+2743C>T
ENST00000478630.1:n.532G>A (CUL7)
ENST00000535468.1:c.2897G>A (CUL7) ENSP00000438788.1:p.Arg966Gln
NM_001168370.1:c.2897G>A (CUL7) NP_001161842.1:p.Arg966Gln
NM_014780.4:c.2645G>A (CUL7) NP_055595.2:p.Arg882Gln
XM_005249503.1:c.2801G>A (CUL7) XP_005249560.1:p.Arg934Gln
XM_006715285.1:c.2741G>A (CUL7) XP_006715348.1:p.Arg914Gln
XM_011515019.1:c.2897G>A (CUL7) XP_011513321.1:p.Arg966Gln
XM_011515020.1:c.2801G>A (CUL7) XP_011513322.1:p.Arg934Gln
XM_011515021.1:c.506G>A (CUL7) XP_011513323.1:p.Arg169Gln
XM_005249503.3:c.2801G>A (CUL7) XP_005249560.1:p.Arg934Gln
XM_006715285.2:c.2741G>A (CUL7) XP_006715348.1:p.Arg914Gln
XM_011515019.2:c.2897G>A (CUL7) XP_011513321.1:p.Arg966Gln
XM_011515020.2:c.2801G>A (CUL7) XP_011513322.1:p.Arg934Gln
XM_017011533.1:c.2924G>A (CUL7) XP_016867022.1:p.Arg975Gln
XM_017011534.1:c.2924G>A (CUL7) XP_016867023.1:p.Arg975Gln
XM_017011535.1:c.2828G>A (CUL7) XP_016867024.1:p.Arg943Gln
XM_017011536.2:c.2768G>A (CUL7) XP_016867025.1:p.Arg923Gln
XM_017011537.2:c.2741G>A (CUL7) XP_016867026.1:p.Arg914Gln
XM_017011538.2:c.2672G>A (CUL7) XP_016867027.1:p.Arg891Gln
XM_017011539.2:c.2645G>A (CUL7) XP_016867028.1:p.Arg882Gln
NM_001168370.2:c.2741G>A (CUL7) NP_001161842.2:p.Arg914Gln
NM_001374872.1:c.2741G>A (CUL7) NP_001361801.1:p.Arg914Gln
NM_001374873.1:c.2645G>A (CUL7) NP_001361802.1:p.Arg882Gln
NM_001374874.1:c.2645G>A (CUL7) NP_001361803.1:p.Arg882Gln
NM_014780.5:c.2645G>A (CUL7) MANE Select NP_055595.2:p.Arg882Gln