Canonical Allele Identifier: CA3813462

Linked Data

ClinVar Variation Id: 2046970
ClinVar RCV Id: RCV002903946
dbSNP Id: rs767078051
gnomAD v2: 6-43010718-T-C
gnomAD v4: 6-43042980-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43042980T>C , CM000668.2:g.43042980T>C GRCh38
NC_000006.11:g.43010718T>C , CM000668.1:g.43010718T>C GRCh37
NC_000006.10:g.43118696T>C NCBI36
NG_016205.1:g.15966A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000478630.2:n.1538A>G (CUL7)
ENST00000674112.2:c.3467A>G (CUL7) ENSP00000501166.2:p.Asn1156Ser
ENST00000685042.1:c.*123A>G (CUL7) ENSP00000509871.1:n.*123A>G
ENST00000686442.1:n.4028A>G (CUL7)
ENST00000687225.1:c.*1764A>G (CUL7) ENSP00000509364.1:n.*1764A>G
ENST00000688302.1:n.3750A>G (CUL7)
ENST00000689256.1:n.4044A>G (CUL7)
ENST00000690231.1:c.3467A>G (CUL7) ENSP00000508461.1:p.Asn1156Ser
ENST00000265348.9:c.3467A>G (CUL7) MANE Select ENSP00000265348.4:p.Asn1156Ser
ENST00000673725.1:c.1412-74A>G (CUL7)
ENST00000673753.1:n.4306A>G (CUL7)
ENST00000674100.1:c.3563A>G (CUL7) ENSP00000501292.1:p.Asn1188Ser
ENST00000674112.1:c.1959A>G (CUL7)
ENST00000674134.1:c.3563A>G (CUL7) ENSP00000501068.1:p.Asn1188Ser
ENST00000265348.7:c.3467A>G (CUL7) ENSP00000265348.3:p.Asn1156Ser
ENST00000467906.5:c.-1003-78T>C (KLC4) ENSP00000418759.1:n.-1003-78T>C
ENST00000535468.1:c.3719A>G (CUL7) ENSP00000438788.1:p.Asn1240Ser
NM_001168370.1:c.3719A>G (CUL7) NP_001161842.1:p.Asn1240Ser
NM_014780.4:c.3467A>G (CUL7) NP_055595.2:p.Asn1156Ser
XM_005249503.1:c.3623A>G (CUL7) XP_005249560.1:p.Asn1208Ser
XM_006715285.1:c.3563A>G (CUL7) XP_006715348.1:p.Asn1188Ser
XM_011515019.1:c.3719A>G (CUL7) XP_011513321.1:p.Asn1240Ser
XM_011515020.1:c.3623A>G (CUL7) XP_011513322.1:p.Asn1208Ser
XM_011515021.1:c.1328A>G (CUL7) XP_011513323.1:p.Asn443Ser
XM_005249503.3:c.3623A>G (CUL7) XP_005249560.1:p.Asn1208Ser
XM_006715285.2:c.3563A>G (CUL7) XP_006715348.1:p.Asn1188Ser
XM_011515019.2:c.3719A>G (CUL7) XP_011513321.1:p.Asn1240Ser
XM_011515020.2:c.3623A>G (CUL7) XP_011513322.1:p.Asn1208Ser
XM_017011533.1:c.3746A>G (CUL7) XP_016867022.1:p.Asn1249Ser
XM_017011534.1:c.3746A>G (CUL7) XP_016867023.1:p.Asn1249Ser
XM_017011535.1:c.3650A>G (CUL7) XP_016867024.1:p.Asn1217Ser
XM_017011536.2:c.3590A>G (CUL7) XP_016867025.1:p.Asn1197Ser
XM_017011537.2:c.3563A>G (CUL7) XP_016867026.1:p.Asn1188Ser
XM_017011538.2:c.3494A>G (CUL7) XP_016867027.1:p.Asn1165Ser
XM_017011539.2:c.3467A>G (CUL7) XP_016867028.1:p.Asn1156Ser
NM_001168370.2:c.3563A>G (CUL7) NP_001161842.2:p.Asn1188Ser
NM_001374872.1:c.3563A>G (CUL7) NP_001361801.1:p.Asn1188Ser
NM_001374873.1:c.3467A>G (CUL7) NP_001361802.1:p.Asn1156Ser
NM_001374874.1:c.3464A>G (CUL7) NP_001361803.1:p.Asn1155Ser
NM_014780.5:c.3467A>G (CUL7) MANE Select NP_055595.2:p.Asn1156Ser