Linked Data
ClinVar Variation Id:
2046970
ClinVar RCV Id:
RCV002903946
dbSNP Id:
rs767078051
ExAC:
6:43010718 T / C
gnomAD v2:
6-43010718-T-C
gnomAD v4:
6-43042980-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43042980T>C , CM000668.2:g.43042980T>C | GRCh38 |
| NC_000006.11:g.43010718T>C , CM000668.1:g.43010718T>C | GRCh37 |
| NC_000006.10:g.43118696T>C | NCBI36 |
| NG_016205.1:g.15966A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478630.2:n.1538A>G (CUL7) | ||
| ENST00000674112.2:c.3467A>G (CUL7) | ENSP00000501166.2:p.Asn1156Ser | |
| ENST00000685042.1:c.*123A>G (CUL7) | ENSP00000509871.1:n.*123A>G | |
| ENST00000686442.1:n.4028A>G (CUL7) | ||
| ENST00000687225.1:c.*1764A>G (CUL7) | ENSP00000509364.1:n.*1764A>G | |
| ENST00000688302.1:n.3750A>G (CUL7) | ||
| ENST00000689256.1:n.4044A>G (CUL7) | ||
| ENST00000690231.1:c.3467A>G (CUL7) | ENSP00000508461.1:p.Asn1156Ser | |
| ENST00000265348.9:c.3467A>G (CUL7) MANE Select | ENSP00000265348.4:p.Asn1156Ser | |
| ENST00000673725.1:c.1412-74A>G (CUL7) | ||
| ENST00000673753.1:n.4306A>G (CUL7) | ||
| ENST00000674100.1:c.3563A>G (CUL7) | ENSP00000501292.1:p.Asn1188Ser | |
| ENST00000674112.1:c.1959A>G (CUL7) | ||
| ENST00000674134.1:c.3563A>G (CUL7) | ENSP00000501068.1:p.Asn1188Ser | |
| ENST00000265348.7:c.3467A>G (CUL7) | ENSP00000265348.3:p.Asn1156Ser | |
| ENST00000467906.5:c.-1003-78T>C (KLC4) | ENSP00000418759.1:n.-1003-78T>C | |
| ENST00000535468.1:c.3719A>G (CUL7) | ENSP00000438788.1:p.Asn1240Ser | |
| NM_001168370.1:c.3719A>G (CUL7) | NP_001161842.1:p.Asn1240Ser | |
| NM_014780.4:c.3467A>G (CUL7) | NP_055595.2:p.Asn1156Ser | |
| XM_005249503.1:c.3623A>G (CUL7) | XP_005249560.1:p.Asn1208Ser | |
| XM_006715285.1:c.3563A>G (CUL7) | XP_006715348.1:p.Asn1188Ser | |
| XM_011515019.1:c.3719A>G (CUL7) | XP_011513321.1:p.Asn1240Ser | |
| XM_011515020.1:c.3623A>G (CUL7) | XP_011513322.1:p.Asn1208Ser | |
| XM_011515021.1:c.1328A>G (CUL7) | XP_011513323.1:p.Asn443Ser | |
| XM_005249503.3:c.3623A>G (CUL7) | XP_005249560.1:p.Asn1208Ser | |
| XM_006715285.2:c.3563A>G (CUL7) | XP_006715348.1:p.Asn1188Ser | |
| XM_011515019.2:c.3719A>G (CUL7) | XP_011513321.1:p.Asn1240Ser | |
| XM_011515020.2:c.3623A>G (CUL7) | XP_011513322.1:p.Asn1208Ser | |
| XM_017011533.1:c.3746A>G (CUL7) | XP_016867022.1:p.Asn1249Ser | |
| XM_017011534.1:c.3746A>G (CUL7) | XP_016867023.1:p.Asn1249Ser | |
| XM_017011535.1:c.3650A>G (CUL7) | XP_016867024.1:p.Asn1217Ser | |
| XM_017011536.2:c.3590A>G (CUL7) | XP_016867025.1:p.Asn1197Ser | |
| XM_017011537.2:c.3563A>G (CUL7) | XP_016867026.1:p.Asn1188Ser | |
| XM_017011538.2:c.3494A>G (CUL7) | XP_016867027.1:p.Asn1165Ser | |
| XM_017011539.2:c.3467A>G (CUL7) | XP_016867028.1:p.Asn1156Ser | |
| NM_001168370.2:c.3563A>G (CUL7) | NP_001161842.2:p.Asn1188Ser | |
| NM_001374872.1:c.3563A>G (CUL7) | NP_001361801.1:p.Asn1188Ser | |
| NM_001374873.1:c.3467A>G (CUL7) | NP_001361802.1:p.Asn1156Ser | |
| NM_001374874.1:c.3464A>G (CUL7) | NP_001361803.1:p.Asn1155Ser | |
| NM_014780.5:c.3467A>G (CUL7) MANE Select | NP_055595.2:p.Asn1156Ser |