Linked Data
ClinVar Variation Id:
1696321
ClinVar RCV Id:
RCV002266466
dbSNP Id:
rs1239557315
gnomAD v2:
6-43013003-C-T
gnomAD v3:
6-43045265-C-T
gnomAD v4:
6-43045265-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43045265C>T , CM000668.2:g.43045265C>T | GRCh38 |
| NC_000006.11:g.43013003C>T , CM000668.1:g.43013003C>T | GRCh37 |
| NC_000006.10:g.43120981C>T | NCBI36 |
| NG_016205.1:g.13681G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478630.2:n.1071G>A (CUL7) | ||
| ENST00000674112.2:c.3000G>A (CUL7) | ENSP00000501166.2:p.Met1000Ile | |
| ENST00000685042.1:c.3000G>A (CUL7) | ENSP00000509871.1:p.Met1000Ile | |
| ENST00000686442.1:n.3561G>A (CUL7) | ||
| ENST00000687225.1:c.*1297G>A (CUL7) | ENSP00000509364.1:n.*1297G>A | |
| ENST00000688302.1:n.3283G>A (CUL7) | ||
| ENST00000689256.1:n.3577G>A (CUL7) | ||
| ENST00000690231.1:c.3000G>A (CUL7) | ENSP00000508461.1:p.Met1000Ile | |
| ENST00000265348.9:c.3000G>A (CUL7) MANE Select | ENSP00000265348.4:p.Met1000Ile | |
| ENST00000673725.1:c.949G>A (CUL7) | ||
| ENST00000673753.1:n.3839G>A (CUL7) | ||
| ENST00000674100.1:c.3096G>A (CUL7) | ENSP00000501292.1:p.Met1032Ile | |
| ENST00000674112.1:c.1492G>A (CUL7) | ||
| ENST00000674134.1:c.3096G>A (CUL7) | ENSP00000501068.1:p.Met1032Ile | |
| ENST00000265348.7:c.3000G>A (CUL7) | ENSP00000265348.3:p.Met1000Ile | |
| ENST00000467906.5:c.-553+1757C>T (KLC4) | ENSP00000418759.1:n.-553+1757C>T | |
| ENST00000535468.1:c.3252G>A (CUL7) | ENSP00000438788.1:p.Met1084Ile | |
| NM_001168370.1:c.3252G>A (CUL7) | NP_001161842.1:p.Met1084Ile | |
| NM_014780.4:c.3000G>A (CUL7) | NP_055595.2:p.Met1000Ile | |
| XM_005249503.1:c.3156G>A (CUL7) | XP_005249560.1:p.Met1052Ile | |
| XM_006715285.1:c.3096G>A (CUL7) | XP_006715348.1:p.Met1032Ile | |
| XM_011515019.1:c.3252G>A (CUL7) | XP_011513321.1:p.Met1084Ile | |
| XM_011515020.1:c.3156G>A (CUL7) | XP_011513322.1:p.Met1052Ile | |
| XM_011515021.1:c.861G>A (CUL7) | XP_011513323.1:p.Met287Ile | |
| XM_005249503.3:c.3156G>A (CUL7) | XP_005249560.1:p.Met1052Ile | |
| XM_006715285.2:c.3096G>A (CUL7) | XP_006715348.1:p.Met1032Ile | |
| XM_011515019.2:c.3252G>A (CUL7) | XP_011513321.1:p.Met1084Ile | |
| XM_011515020.2:c.3156G>A (CUL7) | XP_011513322.1:p.Met1052Ile | |
| XM_017011533.1:c.3279G>A (CUL7) | XP_016867022.1:p.Met1093Ile | |
| XM_017011534.1:c.3279G>A (CUL7) | XP_016867023.1:p.Met1093Ile | |
| XM_017011535.1:c.3183G>A (CUL7) | XP_016867024.1:p.Met1061Ile | |
| XM_017011536.2:c.3123G>A (CUL7) | XP_016867025.1:p.Met1041Ile | |
| XM_017011537.2:c.3096G>A (CUL7) | XP_016867026.1:p.Met1032Ile | |
| XM_017011538.2:c.3027G>A (CUL7) | XP_016867027.1:p.Met1009Ile | |
| XM_017011539.2:c.3000G>A (CUL7) | XP_016867028.1:p.Met1000Ile | |
| NM_001168370.2:c.3096G>A (CUL7) | NP_001161842.2:p.Met1032Ile | |
| NM_001374872.1:c.3096G>A (CUL7) | NP_001361801.1:p.Met1032Ile | |
| NM_001374873.1:c.3000G>A (CUL7) | NP_001361802.1:p.Met1000Ile | |
| NM_001374874.1:c.3000G>A (CUL7) | NP_001361803.1:p.Met1000Ile | |
| NM_014780.5:c.3000G>A (CUL7) MANE Select | NP_055595.2:p.Met1000Ile |