Linked Data
ClinVar Variation Id:
3042430
ClinVar RCV Id:
RCV003941382
dbSNP Id:
rs772341987
ExAC:
6:43019123 C / T
gnomAD v2:
6-43019123-C-T
gnomAD v4:
6-43051385-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43051385C>T , CM000668.2:g.43051385C>T | GRCh38 |
| NC_000006.11:g.43019123C>T , CM000668.1:g.43019123C>T | GRCh37 |
| NC_000006.10:g.43127101C>T | NCBI36 |
| NG_016205.1:g.7561G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674112.2:c.816G>A (CUL7) | ENSP00000501166.2:p.Ala272= | |
| ENST00000683160.1:n.1198G>A (CUL7) | ||
| ENST00000683493.1:n.857G>A (CUL7) | ||
| ENST00000685042.1:c.816G>A (CUL7) | ENSP00000509871.1:p.Ala272= | |
| ENST00000686442.1:n.1099G>A (CUL7) | ||
| ENST00000687225.1:c.912G>A (CUL7) | ENSP00000509364.1:p.Ala304= | |
| ENST00000688302.1:n.1099G>A (CUL7) | ||
| ENST00000688707.1:c.912G>A (CUL7) | ENSP00000510608.1:p.Ala304= | |
| ENST00000689256.1:n.1115G>A (CUL7) | ||
| ENST00000690231.1:c.816G>A (CUL7) | ENSP00000508461.1:p.Ala272= | |
| ENST00000265348.9:c.816G>A (CUL7) MANE Select | ENSP00000265348.4:p.Ala272= | |
| ENST00000673753.1:n.1150G>A (CUL7) | ||
| ENST00000673761.1:c.1567G>A | ENSP00000501018.1:n.1567G>A | |
| ENST00000674100.1:c.912G>A (CUL7) | ENSP00000501292.1:p.Ala304= | |
| ENST00000674134.1:c.912G>A (CUL7) | ENSP00000501068.1:p.Ala304= | |
| ENST00000265348.7:c.816G>A (CUL7) | ENSP00000265348.3:p.Ala272= | |
| ENST00000467906.5:c.-552-7641C>T (KLC4) | ENSP00000418759.1:n.-552-7641C>T | |
| ENST00000535468.1:c.1068G>A (CUL7) | ENSP00000438788.1:p.Ala356= | |
| NM_001168370.1:c.1068G>A (CUL7) | NP_001161842.1:p.Ala356= | |
| NM_014780.4:c.816G>A (CUL7) | NP_055595.2:p.Ala272= | |
| XM_005249503.1:c.972G>A (CUL7) | XP_005249560.1:p.Ala324= | |
| XM_006715285.1:c.912G>A (CUL7) | XP_006715348.1:p.Ala304= | |
| XM_011515019.1:c.1068G>A (CUL7) | XP_011513321.1:p.Ala356= | |
| XM_011515020.1:c.972G>A (CUL7) | XP_011513322.1:p.Ala324= | |
| XM_005249503.3:c.972G>A (CUL7) | XP_005249560.1:p.Ala324= | |
| XM_006715285.2:c.912G>A (CUL7) | XP_006715348.1:p.Ala304= | |
| XM_011515019.2:c.1068G>A (CUL7) | XP_011513321.1:p.Ala356= | |
| XM_011515020.2:c.972G>A (CUL7) | XP_011513322.1:p.Ala324= | |
| XM_017011533.1:c.1068G>A (CUL7) | XP_016867022.1:p.Ala356= | |
| XM_017011534.1:c.1068G>A (CUL7) | XP_016867023.1:p.Ala356= | |
| XM_017011535.1:c.972G>A (CUL7) | XP_016867024.1:p.Ala324= | |
| XM_017011536.2:c.912G>A (CUL7) | XP_016867025.1:p.Ala304= | |
| XM_017011537.2:c.912G>A (CUL7) | XP_016867026.1:p.Ala304= | |
| XM_017011538.2:c.816G>A (CUL7) | XP_016867027.1:p.Ala272= | |
| XM_017011539.2:c.816G>A (CUL7) | XP_016867028.1:p.Ala272= | |
| XM_017011540.1:c.1068G>A (CUL7) | XP_016867029.1:p.Ala356= | |
| NM_001168370.2:c.912G>A (CUL7) | NP_001161842.2:p.Ala304= | |
| NM_001374872.1:c.912G>A (CUL7) | NP_001361801.1:p.Ala304= | |
| NM_001374873.1:c.816G>A (CUL7) | NP_001361802.1:p.Ala272= | |
| NM_001374874.1:c.816G>A (CUL7) | NP_001361803.1:p.Ala272= | |
| NM_014780.5:c.816G>A (CUL7) MANE Select | NP_055595.2:p.Ala272= |