Linked Data
ClinVar Variation Id:
2252409
ClinVar RCV Id:
RCV002768100
dbSNP Id:
rs764312242
ExAC:
6:43010832 G / A
gnomAD v2:
6-43010832-G-A
gnomAD v3:
6-43043094-G-A
gnomAD v4:
6-43043094-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43043094G>A , CM000668.2:g.43043094G>A | GRCh38 |
| NC_000006.11:g.43010832G>A , CM000668.1:g.43010832G>A | GRCh37 |
| NC_000006.10:g.43118810G>A | NCBI36 |
| NG_016205.1:g.15852C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478630.2:n.1513C>T (CUL7) | ||
| ENST00000674112.2:c.3442C>T (CUL7) | ENSP00000501166.2:p.Arg1148Trp | |
| ENST00000685042.1:c.*98C>T (CUL7) | ENSP00000509871.1:n.*98C>T | |
| ENST00000686442.1:n.4003C>T (CUL7) | ||
| ENST00000687225.1:c.*1739C>T (CUL7) | ENSP00000509364.1:n.*1739C>T | |
| ENST00000688302.1:n.3725C>T (CUL7) | ||
| ENST00000689256.1:n.4019C>T (CUL7) | ||
| ENST00000690231.1:c.3442C>T (CUL7) | ENSP00000508461.1:p.Arg1148Trp | |
| ENST00000265348.9:c.3442C>T (CUL7) MANE Select | ENSP00000265348.4:p.Arg1148Trp | |
| ENST00000673725.1:c.1391C>T (CUL7) | ||
| ENST00000673753.1:n.4281C>T (CUL7) | ||
| ENST00000674100.1:c.3538C>T (CUL7) | ENSP00000501292.1:p.Arg1180Trp | |
| ENST00000674112.1:c.1934C>T (CUL7) | ||
| ENST00000674134.1:c.3538C>T (CUL7) | ENSP00000501068.1:p.Arg1180Trp | |
| ENST00000265348.7:c.3442C>T (CUL7) | ENSP00000265348.3:p.Arg1148Trp | |
| ENST00000467906.5:c.-967G>A (KLC4) | ENSP00000418759.1:n.-967G>A | |
| ENST00000535468.1:c.3694C>T (CUL7) | ENSP00000438788.1:p.Arg1232Trp | |
| NM_001168370.1:c.3694C>T (CUL7) | NP_001161842.1:p.Arg1232Trp | |
| NM_014780.4:c.3442C>T (CUL7) | NP_055595.2:p.Arg1148Trp | |
| XM_005249503.1:c.3598C>T (CUL7) | XP_005249560.1:p.Arg1200Trp | |
| XM_006715285.1:c.3538C>T (CUL7) | XP_006715348.1:p.Arg1180Trp | |
| XM_011515019.1:c.3694C>T (CUL7) | XP_011513321.1:p.Arg1232Trp | |
| XM_011515020.1:c.3598C>T (CUL7) | XP_011513322.1:p.Arg1200Trp | |
| XM_011515021.1:c.1303C>T (CUL7) | XP_011513323.1:p.Arg435Trp | |
| XM_005249503.3:c.3598C>T (CUL7) | XP_005249560.1:p.Arg1200Trp | |
| XM_006715285.2:c.3538C>T (CUL7) | XP_006715348.1:p.Arg1180Trp | |
| XM_011515019.2:c.3694C>T (CUL7) | XP_011513321.1:p.Arg1232Trp | |
| XM_011515020.2:c.3598C>T (CUL7) | XP_011513322.1:p.Arg1200Trp | |
| XM_017011533.1:c.3721C>T (CUL7) | XP_016867022.1:p.Arg1241Trp | |
| XM_017011534.1:c.3721C>T (CUL7) | XP_016867023.1:p.Arg1241Trp | |
| XM_017011535.1:c.3625C>T (CUL7) | XP_016867024.1:p.Arg1209Trp | |
| XM_017011536.2:c.3565C>T (CUL7) | XP_016867025.1:p.Arg1189Trp | |
| XM_017011537.2:c.3538C>T (CUL7) | XP_016867026.1:p.Arg1180Trp | |
| XM_017011538.2:c.3469C>T (CUL7) | XP_016867027.1:p.Arg1157Trp | |
| XM_017011539.2:c.3442C>T (CUL7) | XP_016867028.1:p.Arg1148Trp | |
| NM_001168370.2:c.3538C>T (CUL7) | NP_001161842.2:p.Arg1180Trp | |
| NM_001374872.1:c.3538C>T (CUL7) | NP_001361801.1:p.Arg1180Trp | |
| NM_001374873.1:c.3442C>T (CUL7) | NP_001361802.1:p.Arg1148Trp | |
| NM_001374874.1:c.3439C>T (CUL7) | NP_001361803.1:p.Arg1147Trp | |
| NM_014780.5:c.3442C>T (CUL7) MANE Select | NP_055595.2:p.Arg1148Trp |