Linked Data
ClinVar Variation Id:
1520741
ClinVar RCV Id:
RCV002030924
dbSNP Id:
rs2150315991
gnomAD v4:
6-43042977-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43042977T>C , CM000668.2:g.43042977T>C | GRCh38 |
| NC_000006.11:g.43010715T>C , CM000668.1:g.43010715T>C | GRCh37 |
| NC_000006.10:g.43118693T>C | NCBI36 |
| NG_016205.1:g.15969A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478630.2:n.1541A>G (CUL7) | ||
| ENST00000674112.2:c.3470A>G (CUL7) | ENSP00000501166.2:p.Asn1157Ser | |
| ENST00000685042.1:c.*126A>G (CUL7) | ENSP00000509871.1:n.*126A>G | |
| ENST00000686442.1:n.4031A>G (CUL7) | ||
| ENST00000687225.1:c.*1767A>G (CUL7) | ENSP00000509364.1:n.*1767A>G | |
| ENST00000688302.1:n.3753A>G (CUL7) | ||
| ENST00000689256.1:n.4047A>G (CUL7) | ||
| ENST00000690231.1:c.3470A>G (CUL7) | ENSP00000508461.1:p.Asn1157Ser | |
| ENST00000265348.9:c.3470A>G (CUL7) MANE Select | ENSP00000265348.4:p.Asn1157Ser | |
| ENST00000673725.1:c.1412-71A>G (CUL7) | ||
| ENST00000673753.1:n.4309A>G (CUL7) | ||
| ENST00000674100.1:c.3566A>G (CUL7) | ENSP00000501292.1:p.Asn1189Ser | |
| ENST00000674112.1:c.1962A>G (CUL7) | ||
| ENST00000674134.1:c.3566A>G (CUL7) | ENSP00000501068.1:p.Asn1189Ser | |
| ENST00000265348.7:c.3470A>G (CUL7) | ENSP00000265348.3:p.Asn1157Ser | |
| ENST00000467906.5:c.-1003-81T>C (KLC4) | ENSP00000418759.1:n.-1003-81T>C | |
| ENST00000535468.1:c.3722A>G (CUL7) | ENSP00000438788.1:p.Asn1241Ser | |
| NM_001168370.1:c.3722A>G (CUL7) | NP_001161842.1:p.Asn1241Ser | |
| NM_014780.4:c.3470A>G (CUL7) | NP_055595.2:p.Asn1157Ser | |
| XM_005249503.1:c.3626A>G (CUL7) | XP_005249560.1:p.Asn1209Ser | |
| XM_006715285.1:c.3566A>G (CUL7) | XP_006715348.1:p.Asn1189Ser | |
| XM_011515019.1:c.3722A>G (CUL7) | XP_011513321.1:p.Asn1241Ser | |
| XM_011515020.1:c.3626A>G (CUL7) | XP_011513322.1:p.Asn1209Ser | |
| XM_011515021.1:c.1331A>G (CUL7) | XP_011513323.1:p.Asn444Ser | |
| XM_005249503.3:c.3626A>G (CUL7) | XP_005249560.1:p.Asn1209Ser | |
| XM_006715285.2:c.3566A>G (CUL7) | XP_006715348.1:p.Asn1189Ser | |
| XM_011515019.2:c.3722A>G (CUL7) | XP_011513321.1:p.Asn1241Ser | |
| XM_011515020.2:c.3626A>G (CUL7) | XP_011513322.1:p.Asn1209Ser | |
| XM_017011533.1:c.3749A>G (CUL7) | XP_016867022.1:p.Asn1250Ser | |
| XM_017011534.1:c.3749A>G (CUL7) | XP_016867023.1:p.Asn1250Ser | |
| XM_017011535.1:c.3653A>G (CUL7) | XP_016867024.1:p.Asn1218Ser | |
| XM_017011536.2:c.3593A>G (CUL7) | XP_016867025.1:p.Asn1198Ser | |
| XM_017011537.2:c.3566A>G (CUL7) | XP_016867026.1:p.Asn1189Ser | |
| XM_017011538.2:c.3497A>G (CUL7) | XP_016867027.1:p.Asn1166Ser | |
| XM_017011539.2:c.3470A>G (CUL7) | XP_016867028.1:p.Asn1157Ser | |
| NM_001168370.2:c.3566A>G (CUL7) | NP_001161842.2:p.Asn1189Ser | |
| NM_001374872.1:c.3566A>G (CUL7) | NP_001361801.1:p.Asn1189Ser | |
| NM_001374873.1:c.3470A>G (CUL7) | NP_001361802.1:p.Asn1157Ser | |
| NM_001374874.1:c.3467A>G (CUL7) | NP_001361803.1:p.Asn1156Ser | |
| NM_014780.5:c.3470A>G (CUL7) MANE Select | NP_055595.2:p.Asn1157Ser |