ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00116972 (AFR)
Genomes Max Group AF
0.00112923 (AFR)
Exomes Max Group AF
0.00103225 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.160356069C>G , CM000665.2:g.160356069C>G | GRCh38 |
| NC_000003.11:g.160073857C>G , CM000665.1:g.160073857C>G | GRCh37 |
| NC_000003.10:g.161556551C>G | NCBI36 |
| NG_022932.1:g.48464G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326448.12:c.721G>C (IFT80) MANE Select | ENSP00000312778.7:p.Gly241Arg | |
| ENST00000326448.11:c.721G>C (IFT80) | ENSP00000312778.7:p.Gly241Arg | |
| ENST00000465537.5:c.310G>C (IFT80) | ENSP00000418602.1:p.Gly104Arg | |
| ENST00000472555.5:c.93G>C (IFT80) | ||
| ENST00000478460.5:n.428G>C (IFT80) | ||
| ENST00000483465.5:c.310G>C (IFT80) | ENSP00000418196.1:p.Gly104Arg | |
| ENST00000483754.1:c.1234G>C (TRIM59-IFT80) | ENSP00000456272.1:p.Gly412Arg | |
| ENST00000484963.5:c.326G>C (IFT80) | ENSP00000420260.1:n.326G>C | |
| ENST00000487943.5:n.1940G>C (IFT80) | ||
| ENST00000496589.5:c.310G>C (IFT80) | ENSP00000420646.1:p.Gly104Arg | |
| NM_001190241.1:c.310G>C (IFT80) | NP_001177170.1:p.Gly104Arg | |
| NM_001190242.1:c.310G>C (IFT80) | NP_001177171.1:p.Gly104Arg | |
| NM_020800.2:c.721G>C (IFT80) | NP_065851.1:p.Gly241Arg | |
| NR_148401.1:n.1429G>C (TRIM59-IFT80) | ||
| NR_148402.1:n.2965G>C (TRIM59-IFT80) | ||
| NR_148403.1:n.3232G>C (TRIM59-IFT80) | ||
| NM_020800.3:c.721G>C (IFT80) MANE Select | NP_065851.1:p.Gly241Arg | |
| NM_001190241.2:c.310G>C (IFT80) | NP_001177170.1:p.Gly104Arg | |
| NM_001190242.2:c.310G>C (IFT80) | NP_001177171.1:p.Gly104Arg |