Canonical Allele Identifier: CA3813436

Linked Data

dbSNP Id: rs747079420
gnomAD v2: 6-43010511-C-A
gnomAD v3: 6-43042773-C-A
gnomAD v4: 6-43042773-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43042773C>A , CM000668.2:g.43042773C>A GRCh38
NC_000006.11:g.43010511C>A , CM000668.1:g.43010511C>A GRCh37
NC_000006.10:g.43118489C>A NCBI36
NG_016205.1:g.16173G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000478630.2:n.1716+29G>T (CUL7)
ENST00000674112.2:c.3645+29G>T (CUL7) ENSP00000501166.2:n.3645+29G>T
ENST00000685042.1:c.*301+29G>T (CUL7) ENSP00000509871.1:n.*301+29G>T
ENST00000686442.1:n.4206+29G>T (CUL7)
ENST00000687225.1:c.*1942+29G>T (CUL7) ENSP00000509364.1:n.*1942+29G>T
ENST00000688302.1:n.3928+29G>T (CUL7)
ENST00000689256.1:n.4222+29G>T (CUL7)
ENST00000690231.1:c.3645+29G>T (CUL7) ENSP00000508461.1:n.3645+29G>T
ENST00000265348.9:c.3645+29G>T (CUL7) MANE Select ENSP00000265348.4:n.3645+29G>T
ENST00000673725.1:c.1516+29G>T (CUL7)
ENST00000673753.1:n.4484+29G>T (CUL7)
ENST00000674100.1:c.3741+29G>T (CUL7) ENSP00000501292.1:n.3741+29G>T
ENST00000674112.1:c.2137+29G>T (CUL7)
ENST00000674134.1:c.3741+29G>T (CUL7) ENSP00000501068.1:n.3741+29G>T
ENST00000265348.7:c.3645+29G>T (CUL7) ENSP00000265348.3:n.3645+29G>T
ENST00000467906.5:c.-1003-285C>A (KLC4) ENSP00000418759.1:n.-1003-285C>A
ENST00000535468.1:c.3897+29G>T (CUL7) ENSP00000438788.1:n.3897+29G>T
NM_001168370.1:c.3897+29G>T (CUL7) NP_001161842.1:n.3897+29G>T
NM_014780.4:c.3645+29G>T (CUL7) NP_055595.2:n.3645+29G>T
XM_005249503.1:c.3801+29G>T (CUL7) XP_005249560.1:n.3801+29G>T
XM_006715285.1:c.3741+29G>T (CUL7) XP_006715348.1:n.3741+29G>T
XM_011515019.1:c.3897+29G>T (CUL7) XP_011513321.1:n.3897+29G>T
XM_011515020.1:c.3801+29G>T (CUL7) XP_011513322.1:n.3801+29G>T
XM_011515021.1:c.1506+29G>T (CUL7) XP_011513323.1:n.1506+29G>T
XM_005249503.3:c.3801+29G>T (CUL7) XP_005249560.1:n.3801+29G>T
XM_006715285.2:c.3741+29G>T (CUL7) XP_006715348.1:n.3741+29G>T
XM_011515019.2:c.3897+29G>T (CUL7) XP_011513321.1:n.3897+29G>T
XM_011515020.2:c.3801+29G>T (CUL7) XP_011513322.1:n.3801+29G>T
XM_017011533.1:c.3924+29G>T (CUL7) XP_016867022.1:n.3924+29G>T
XM_017011534.1:c.3924+29G>T (CUL7) XP_016867023.1:n.3924+29G>T
XM_017011535.1:c.3828+29G>T (CUL7) XP_016867024.1:n.3828+29G>T
XM_017011536.2:c.3768+29G>T (CUL7) XP_016867025.1:n.3768+29G>T
XM_017011537.2:c.3741+29G>T (CUL7) XP_016867026.1:n.3741+29G>T
XM_017011538.2:c.3672+29G>T (CUL7) XP_016867027.1:n.3672+29G>T
XM_017011539.2:c.3645+29G>T (CUL7) XP_016867028.1:n.3645+29G>T
NM_001168370.2:c.3741+29G>T (CUL7) NP_001161842.2:n.3741+29G>T
NM_001374872.1:c.3741+29G>T (CUL7) NP_001361801.1:n.3741+29G>T
NM_001374873.1:c.3645+29G>T (CUL7) NP_001361802.1:n.3645+29G>T
NM_001374874.1:c.3642+29G>T (CUL7) NP_001361803.1:n.3642+29G>T
NM_014780.5:c.3645+29G>T (CUL7) MANE Select NP_055595.2:n.3645+29G>T