Canonical Allele Identifier: CA364202671

Linked Data

dbSNP Id: rs1763570043
gnomAD v3: 6-43042869-A-C
gnomAD v4: 6-43042869-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43042869A>C , CM000668.2:g.43042869A>C GRCh38
NC_000006.11:g.43010607A>C , CM000668.1:g.43010607A>C GRCh37
NC_000006.10:g.43118585A>C NCBI36
NG_016205.1:g.16077T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000478630.2:n.1649T>G (CUL7)
ENST00000674112.2:c.3578T>G (CUL7) ENSP00000501166.2:p.Phe1193Cys
ENST00000685042.1:c.*234T>G (CUL7) ENSP00000509871.1:n.*234T>G
ENST00000686442.1:n.4139T>G (CUL7)
ENST00000687225.1:c.*1875T>G (CUL7) ENSP00000509364.1:n.*1875T>G
ENST00000688302.1:n.3861T>G (CUL7)
ENST00000689256.1:n.4155T>G (CUL7)
ENST00000690231.1:c.3578T>G (CUL7) ENSP00000508461.1:p.Phe1193Cys
ENST00000265348.9:c.3578T>G (CUL7) MANE Select ENSP00000265348.4:p.Phe1193Cys
ENST00000673725.1:c.1449T>G (CUL7)
ENST00000673753.1:n.4417T>G (CUL7)
ENST00000674100.1:c.3674T>G (CUL7) ENSP00000501292.1:p.Phe1225Cys
ENST00000674112.1:c.2070T>G (CUL7)
ENST00000674134.1:c.3674T>G (CUL7) ENSP00000501068.1:p.Phe1225Cys
ENST00000265348.7:c.3578T>G (CUL7) ENSP00000265348.3:p.Phe1193Cys
ENST00000467906.5:c.-1003-189A>C (KLC4) ENSP00000418759.1:n.-1003-189A>C
ENST00000535468.1:c.3830T>G (CUL7) ENSP00000438788.1:p.Phe1277Cys
NM_001168370.1:c.3830T>G (CUL7) NP_001161842.1:p.Phe1277Cys
NM_014780.4:c.3578T>G (CUL7) NP_055595.2:p.Phe1193Cys
XM_005249503.1:c.3734T>G (CUL7) XP_005249560.1:p.Phe1245Cys
XM_006715285.1:c.3674T>G (CUL7) XP_006715348.1:p.Phe1225Cys
XM_011515019.1:c.3830T>G (CUL7) XP_011513321.1:p.Phe1277Cys
XM_011515020.1:c.3734T>G (CUL7) XP_011513322.1:p.Phe1245Cys
XM_011515021.1:c.1439T>G (CUL7) XP_011513323.1:p.Phe480Cys
XM_005249503.3:c.3734T>G (CUL7) XP_005249560.1:p.Phe1245Cys
XM_006715285.2:c.3674T>G (CUL7) XP_006715348.1:p.Phe1225Cys
XM_011515019.2:c.3830T>G (CUL7) XP_011513321.1:p.Phe1277Cys
XM_011515020.2:c.3734T>G (CUL7) XP_011513322.1:p.Phe1245Cys
XM_017011533.1:c.3857T>G (CUL7) XP_016867022.1:p.Phe1286Cys
XM_017011534.1:c.3857T>G (CUL7) XP_016867023.1:p.Phe1286Cys
XM_017011535.1:c.3761T>G (CUL7) XP_016867024.1:p.Phe1254Cys
XM_017011536.2:c.3701T>G (CUL7) XP_016867025.1:p.Phe1234Cys
XM_017011537.2:c.3674T>G (CUL7) XP_016867026.1:p.Phe1225Cys
XM_017011538.2:c.3605T>G (CUL7) XP_016867027.1:p.Phe1202Cys
XM_017011539.2:c.3578T>G (CUL7) XP_016867028.1:p.Phe1193Cys
NM_001168370.2:c.3674T>G (CUL7) NP_001161842.2:p.Phe1225Cys
NM_001374872.1:c.3674T>G (CUL7) NP_001361801.1:p.Phe1225Cys
NM_001374873.1:c.3578T>G (CUL7) NP_001361802.1:p.Phe1193Cys
NM_001374874.1:c.3575T>G (CUL7) NP_001361803.1:p.Phe1192Cys
NM_014780.5:c.3578T>G (CUL7) MANE Select NP_055595.2:p.Phe1193Cys