Linked Data
dbSNP Id:
rs200399545
ExAC:
6:43010944 G / A
gnomAD v2:
6-43010944-G-A
gnomAD v3:
6-43043206-G-A
gnomAD v4:
6-43043206-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43043206G>A , CM000668.2:g.43043206G>A | GRCh38 |
| NC_000006.11:g.43010944G>A , CM000668.1:g.43010944G>A | GRCh37 |
| NC_000006.10:g.43118922G>A | NCBI36 |
| NG_016205.1:g.15740C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478630.2:n.1427-26C>T (CUL7) | ||
| ENST00000674112.2:c.3356-26C>T (CUL7) | ENSP00000501166.2:n.3356-26C>T | |
| ENST00000685042.1:c.*12-26C>T (CUL7) | ENSP00000509871.1:n.*12-26C>T | |
| ENST00000686442.1:n.3917-26C>T (CUL7) | ||
| ENST00000687225.1:c.*1653-26C>T (CUL7) | ENSP00000509364.1:n.*1653-26C>T | |
| ENST00000688302.1:n.3639-26C>T (CUL7) | ||
| ENST00000689256.1:n.3933-26C>T (CUL7) | ||
| ENST00000690231.1:c.3356-26C>T (CUL7) | ENSP00000508461.1:n.3356-26C>T | |
| ENST00000265348.9:c.3356-26C>T (CUL7) MANE Select | ENSP00000265348.4:n.3356-26C>T | |
| ENST00000673725.1:c.1305-26C>T (CUL7) | ||
| ENST00000673753.1:n.4195-26C>T (CUL7) | ||
| ENST00000674100.1:c.3452-26C>T (CUL7) | ENSP00000501292.1:n.3452-26C>T | |
| ENST00000674112.1:c.1848-26C>T (CUL7) | ||
| ENST00000674134.1:c.3452-26C>T (CUL7) | ENSP00000501068.1:n.3452-26C>T | |
| ENST00000265348.7:c.3356-26C>T (CUL7) | ENSP00000265348.3:n.3356-26C>T | |
| ENST00000467906.5:c.-855G>A (KLC4) | ENSP00000418759.1:n.-855G>A | |
| ENST00000535468.1:c.3608-26C>T (CUL7) | ENSP00000438788.1:n.3608-26C>T | |
| NM_001168370.1:c.3608-26C>T (CUL7) | NP_001161842.1:n.3608-26C>T | |
| NM_014780.4:c.3356-26C>T (CUL7) | NP_055595.2:n.3356-26C>T | |
| XM_005249503.1:c.3512-26C>T (CUL7) | XP_005249560.1:n.3512-26C>T | |
| XM_006715285.1:c.3452-26C>T (CUL7) | XP_006715348.1:n.3452-26C>T | |
| XM_011515019.1:c.3608-26C>T (CUL7) | XP_011513321.1:n.3608-26C>T | |
| XM_011515020.1:c.3512-26C>T (CUL7) | XP_011513322.1:n.3512-26C>T | |
| XM_011515021.1:c.1217-26C>T (CUL7) | XP_011513323.1:n.1217-26C>T | |
| XM_005249503.3:c.3512-26C>T (CUL7) | XP_005249560.1:n.3512-26C>T | |
| XM_006715285.2:c.3452-26C>T (CUL7) | XP_006715348.1:n.3452-26C>T | |
| XM_011515019.2:c.3608-26C>T (CUL7) | XP_011513321.1:n.3608-26C>T | |
| XM_011515020.2:c.3512-26C>T (CUL7) | XP_011513322.1:n.3512-26C>T | |
| XM_017011533.1:c.3635-26C>T (CUL7) | XP_016867022.1:n.3635-26C>T | |
| XM_017011534.1:c.3635-26C>T (CUL7) | XP_016867023.1:n.3635-26C>T | |
| XM_017011535.1:c.3539-26C>T (CUL7) | XP_016867024.1:n.3539-26C>T | |
| XM_017011536.2:c.3479-26C>T (CUL7) | XP_016867025.1:n.3479-26C>T | |
| XM_017011537.2:c.3452-26C>T (CUL7) | XP_016867026.1:n.3452-26C>T | |
| XM_017011538.2:c.3383-26C>T (CUL7) | XP_016867027.1:n.3383-26C>T | |
| XM_017011539.2:c.3356-26C>T (CUL7) | XP_016867028.1:n.3356-26C>T | |
| NM_001168370.2:c.3452-26C>T (CUL7) | NP_001161842.2:n.3452-26C>T | |
| NM_001374872.1:c.3452-26C>T (CUL7) | NP_001361801.1:n.3452-26C>T | |
| NM_001374873.1:c.3356-26C>T (CUL7) | NP_001361802.1:n.3356-26C>T | |
| NM_001374874.1:c.3356-29C>T (CUL7) | NP_001361803.1:n.3356-29C>T | |
| NM_014780.5:c.3356-26C>T (CUL7) MANE Select | NP_055595.2:n.3356-26C>T |