ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00014604 (NFE)
Genomes Max Group AF
0.00010175 (NFE)
Exomes Max Group AF
0.00014503 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.160258570T>C , CM000665.2:g.160258570T>C | GRCh38 |
| NC_000003.11:g.159976358T>C , CM000665.1:g.159976358T>C | GRCh37 |
| NC_000003.10:g.161459052T>C | NCBI36 |
| NG_022932.1:g.145963A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326448.12:c.2289A>G (IFT80) MANE Select | ENSP00000312778.7:p.Gln763= | |
| ENST00000326448.11:c.2289A>G (IFT80) | ENSP00000312778.7:p.Gln763= | |
| ENST00000463240.1:n.437A>G (IFT80) | ||
| ENST00000478278.1:n.415A>G (IFT80) | ||
| ENST00000483465.5:c.1878A>G (IFT80) | ENSP00000418196.1:p.Gln626= | |
| ENST00000483754.1:c.2802A>G (TRIM59-IFT80) | ENSP00000456272.1:p.Gln934= | |
| ENST00000487943.5:n.3508A>G (IFT80) | ||
| ENST00000496589.5:c.1878A>G (IFT80) | ENSP00000420646.1:p.Gln626= | |
| NM_001190241.1:c.1878A>G (IFT80) | NP_001177170.1:p.Gln626= | |
| NM_001190242.1:c.1878A>G (IFT80) | NP_001177171.1:p.Gln626= | |
| NM_020800.2:c.2289A>G (IFT80) | NP_065851.1:p.Gln763= | |
| XR_924136.1:n.2900-2300T>C (C3orf80) | ||
| XR_924137.1:n.2900-2300T>C (C3orf80) | ||
| XR_924138.1:n.2900-31102T>C (C3orf80) | ||
| NR_148401.1:n.2997A>G (TRIM59-IFT80) | ||
| NR_148402.1:n.4533A>G (TRIM59-IFT80) | ||
| NR_148403.1:n.4800A>G (TRIM59-IFT80) | ||
| NM_020800.3:c.2289A>G (IFT80) MANE Select | NP_065851.1:p.Gln763= | |
| NM_001190241.2:c.1878A>G (IFT80) | NP_001177170.1:p.Gln626= | |
| NM_001190242.2:c.1878A>G (IFT80) | NP_001177171.1:p.Gln626= |