ClinVar Variation:
dbSNP:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.160285858G>A , CM000665.2:g.160285858G>A | GRCh38 |
| NC_000003.11:g.160003646G>A , CM000665.1:g.160003646G>A | GRCh37 |
| NC_000003.10:g.161486340G>A | NCBI36 |
| NG_022932.1:g.118675C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326448.12:c.1326C>T (IFT80) MANE Select | ENSP00000312778.7:p.Leu442= | |
| ENST00000326448.11:c.1326C>T (IFT80) | ENSP00000312778.7:p.Leu442= | |
| ENST00000483465.5:c.915C>T (IFT80) | ENSP00000418196.1:p.Leu305= | |
| ENST00000483754.1:c.1839C>T (TRIM59-IFT80) | ENSP00000456272.1:p.Leu613= | |
| ENST00000487943.5:n.2545C>T (IFT80) | ||
| ENST00000496589.5:c.915C>T (IFT80) | ENSP00000420646.1:p.Leu305= | |
| NM_001190241.1:c.915C>T (IFT80) | NP_001177170.1:p.Leu305= | |
| NM_001190242.1:c.915C>T (IFT80) | NP_001177171.1:p.Leu305= | |
| NM_020800.2:c.1326C>T (IFT80) | NP_065851.1:p.Leu442= | |
| XR_924138.1:n.2900-3814G>A (C3orf80) | ||
| NR_148401.1:n.2034C>T (TRIM59-IFT80) | ||
| NR_148402.1:n.3570C>T (TRIM59-IFT80) | ||
| NR_148403.1:n.3837C>T (TRIM59-IFT80) | ||
| NM_020800.3:c.1326C>T (IFT80) MANE Select | NP_065851.1:p.Leu442= | |
| NM_001190241.2:c.915C>T (IFT80) | NP_001177170.1:p.Leu305= | |
| NM_001190242.2:c.915C>T (IFT80) | NP_001177171.1:p.Leu305= |