Linked Data
ClinVar Variation Id:
2180484
ClinVar RCV Id:
RCV002602845
dbSNP Id:
rs1256914448
gnomAD v2:
6-43010605-A-G
gnomAD v3:
6-43042867-A-G
gnomAD v4:
6-43042867-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43042867A>G , CM000668.2:g.43042867A>G | GRCh38 |
| NC_000006.11:g.43010605A>G , CM000668.1:g.43010605A>G | GRCh37 |
| NC_000006.10:g.43118583A>G | NCBI36 |
| NG_016205.1:g.16079T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478630.2:n.1651T>C (CUL7) | ||
| ENST00000674112.2:c.3580T>C (CUL7) | ENSP00000501166.2:p.Leu1194= | |
| ENST00000685042.1:c.*236T>C (CUL7) | ENSP00000509871.1:n.*236T>C | |
| ENST00000686442.1:n.4141T>C (CUL7) | ||
| ENST00000687225.1:c.*1877T>C (CUL7) | ENSP00000509364.1:n.*1877T>C | |
| ENST00000688302.1:n.3863T>C (CUL7) | ||
| ENST00000689256.1:n.4157T>C (CUL7) | ||
| ENST00000690231.1:c.3580T>C (CUL7) | ENSP00000508461.1:p.Leu1194= | |
| ENST00000265348.9:c.3580T>C (CUL7) MANE Select | ENSP00000265348.4:p.Leu1194= | |
| ENST00000673725.1:c.1451T>C (CUL7) | ||
| ENST00000673753.1:n.4419T>C (CUL7) | ||
| ENST00000674100.1:c.3676T>C (CUL7) | ENSP00000501292.1:p.Leu1226= | |
| ENST00000674112.1:c.2072T>C (CUL7) | ||
| ENST00000674134.1:c.3676T>C (CUL7) | ENSP00000501068.1:p.Leu1226= | |
| ENST00000265348.7:c.3580T>C (CUL7) | ENSP00000265348.3:p.Leu1194= | |
| ENST00000467906.5:c.-1003-191A>G (KLC4) | ENSP00000418759.1:n.-1003-191A>G | |
| ENST00000535468.1:c.3832T>C (CUL7) | ENSP00000438788.1:p.Leu1278= | |
| NM_001168370.1:c.3832T>C (CUL7) | NP_001161842.1:p.Leu1278= | |
| NM_014780.4:c.3580T>C (CUL7) | NP_055595.2:p.Leu1194= | |
| XM_005249503.1:c.3736T>C (CUL7) | XP_005249560.1:p.Leu1246= | |
| XM_006715285.1:c.3676T>C (CUL7) | XP_006715348.1:p.Leu1226= | |
| XM_011515019.1:c.3832T>C (CUL7) | XP_011513321.1:p.Leu1278= | |
| XM_011515020.1:c.3736T>C (CUL7) | XP_011513322.1:p.Leu1246= | |
| XM_011515021.1:c.1441T>C (CUL7) | XP_011513323.1:p.Leu481= | |
| XM_005249503.3:c.3736T>C (CUL7) | XP_005249560.1:p.Leu1246= | |
| XM_006715285.2:c.3676T>C (CUL7) | XP_006715348.1:p.Leu1226= | |
| XM_011515019.2:c.3832T>C (CUL7) | XP_011513321.1:p.Leu1278= | |
| XM_011515020.2:c.3736T>C (CUL7) | XP_011513322.1:p.Leu1246= | |
| XM_017011533.1:c.3859T>C (CUL7) | XP_016867022.1:p.Leu1287= | |
| XM_017011534.1:c.3859T>C (CUL7) | XP_016867023.1:p.Leu1287= | |
| XM_017011535.1:c.3763T>C (CUL7) | XP_016867024.1:p.Leu1255= | |
| XM_017011536.2:c.3703T>C (CUL7) | XP_016867025.1:p.Leu1235= | |
| XM_017011537.2:c.3676T>C (CUL7) | XP_016867026.1:p.Leu1226= | |
| XM_017011538.2:c.3607T>C (CUL7) | XP_016867027.1:p.Leu1203= | |
| XM_017011539.2:c.3580T>C (CUL7) | XP_016867028.1:p.Leu1194= | |
| NM_001168370.2:c.3676T>C (CUL7) | NP_001161842.2:p.Leu1226= | |
| NM_001374872.1:c.3676T>C (CUL7) | NP_001361801.1:p.Leu1226= | |
| NM_001374873.1:c.3580T>C (CUL7) | NP_001361802.1:p.Leu1194= | |
| NM_001374874.1:c.3577T>C (CUL7) | NP_001361803.1:p.Leu1193= | |
| NM_014780.5:c.3580T>C (CUL7) MANE Select | NP_055595.2:p.Leu1194= |