Linked Data
ClinVar Variation Id:
3078981
ClinVar RCV Id:
RCV004375270
dbSNP Id:
rs563733977
ExAC:
6:43019148 A / C
gnomAD v2:
6-43019148-A-C
gnomAD v3:
6-43051410-A-C
gnomAD v4:
6-43051410-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43051410A>C , CM000668.2:g.43051410A>C | GRCh38 |
| NC_000006.11:g.43019148A>C , CM000668.1:g.43019148A>C | GRCh37 |
| NC_000006.10:g.43127126A>C | NCBI36 |
| NG_016205.1:g.7536T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674112.2:c.791T>G (CUL7) | ENSP00000501166.2:p.Leu264Arg | |
| ENST00000683160.1:n.1173T>G (CUL7) | ||
| ENST00000683493.1:n.832T>G (CUL7) | ||
| ENST00000685042.1:c.791T>G (CUL7) | ENSP00000509871.1:p.Leu264Arg | |
| ENST00000686442.1:n.1074T>G (CUL7) | ||
| ENST00000687225.1:c.887T>G (CUL7) | ENSP00000509364.1:p.Leu296Arg | |
| ENST00000688302.1:n.1074T>G (CUL7) | ||
| ENST00000688707.1:c.887T>G (CUL7) | ENSP00000510608.1:p.Leu296Arg | |
| ENST00000689256.1:n.1090T>G (CUL7) | ||
| ENST00000690231.1:c.791T>G (CUL7) | ENSP00000508461.1:p.Leu264Arg | |
| ENST00000265348.9:c.791T>G (CUL7) MANE Select | ENSP00000265348.4:p.Leu264Arg | |
| ENST00000673753.1:n.1125T>G (CUL7) | ||
| ENST00000673761.1:c.1542T>G | ENSP00000501018.1:n.1542T>G | |
| ENST00000674100.1:c.887T>G (CUL7) | ENSP00000501292.1:p.Leu296Arg | |
| ENST00000674134.1:c.887T>G (CUL7) | ENSP00000501068.1:p.Leu296Arg | |
| ENST00000265348.7:c.791T>G (CUL7) | ENSP00000265348.3:p.Leu264Arg | |
| ENST00000467906.5:c.-552-7616A>C (KLC4) | ENSP00000418759.1:n.-552-7616A>C | |
| ENST00000535468.1:c.1043T>G (CUL7) | ENSP00000438788.1:p.Leu348Arg | |
| NM_001168370.1:c.1043T>G (CUL7) | NP_001161842.1:p.Leu348Arg | |
| NM_014780.4:c.791T>G (CUL7) | NP_055595.2:p.Leu264Arg | |
| XM_005249503.1:c.947T>G (CUL7) | XP_005249560.1:p.Leu316Arg | |
| XM_006715285.1:c.887T>G (CUL7) | XP_006715348.1:p.Leu296Arg | |
| XM_011515019.1:c.1043T>G (CUL7) | XP_011513321.1:p.Leu348Arg | |
| XM_011515020.1:c.947T>G (CUL7) | XP_011513322.1:p.Leu316Arg | |
| XM_005249503.3:c.947T>G (CUL7) | XP_005249560.1:p.Leu316Arg | |
| XM_006715285.2:c.887T>G (CUL7) | XP_006715348.1:p.Leu296Arg | |
| XM_011515019.2:c.1043T>G (CUL7) | XP_011513321.1:p.Leu348Arg | |
| XM_011515020.2:c.947T>G (CUL7) | XP_011513322.1:p.Leu316Arg | |
| XM_017011533.1:c.1043T>G (CUL7) | XP_016867022.1:p.Leu348Arg | |
| XM_017011534.1:c.1043T>G (CUL7) | XP_016867023.1:p.Leu348Arg | |
| XM_017011535.1:c.947T>G (CUL7) | XP_016867024.1:p.Leu316Arg | |
| XM_017011536.2:c.887T>G (CUL7) | XP_016867025.1:p.Leu296Arg | |
| XM_017011537.2:c.887T>G (CUL7) | XP_016867026.1:p.Leu296Arg | |
| XM_017011538.2:c.791T>G (CUL7) | XP_016867027.1:p.Leu264Arg | |
| XM_017011539.2:c.791T>G (CUL7) | XP_016867028.1:p.Leu264Arg | |
| XM_017011540.1:c.1043T>G (CUL7) | XP_016867029.1:p.Leu348Arg | |
| NM_001168370.2:c.887T>G (CUL7) | NP_001161842.2:p.Leu296Arg | |
| NM_001374872.1:c.887T>G (CUL7) | NP_001361801.1:p.Leu296Arg | |
| NM_001374873.1:c.791T>G (CUL7) | NP_001361802.1:p.Leu264Arg | |
| NM_001374874.1:c.791T>G (CUL7) | NP_001361803.1:p.Leu264Arg | |
| NM_014780.5:c.791T>G (CUL7) MANE Select | NP_055595.2:p.Leu264Arg |