Linked Data
ClinVar Variation Id:
343980
dbSNP Id:
rs34182424
ExAC:
3:160083918 C / T
gnomAD v2:
3-160083918-C-T
gnomAD v3:
3-160366130-C-T
gnomAD v4:
3-160366130-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.160366130C>T , CM000665.2:g.160366130C>T | GRCh38 |
| NC_000003.11:g.160083918C>T , CM000665.1:g.160083918C>T | GRCh37 |
| NC_000003.10:g.161566612C>T | NCBI36 |
| NG_022932.1:g.38403G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326448.12:c.462G>A (IFT80) MANE Select | ENSP00000312778.7:p.Ala154= | |
| ENST00000326448.11:c.462G>A (IFT80) | ENSP00000312778.7:p.Ala154= | |
| ENST00000465537.5:c.51G>A (IFT80) | ENSP00000418602.1:p.Ala17= | |
| ENST00000468218.5:c.51G>A (IFT80) | ENSP00000417057.1:p.Ala17= | |
| ENST00000472773.5:n.564-8552G>A (IFT80) | ||
| ENST00000475677.5:c.51G>A (IFT80) | ENSP00000419458.1:p.Ala17= | |
| ENST00000478370.5:c.51G>A (IFT80) | ENSP00000420758.1:p.Ala17= | |
| ENST00000478460.5:n.257-8552G>A (IFT80) | ||
| ENST00000483465.5:c.51G>A (IFT80) | ENSP00000418196.1:p.Ala17= | |
| ENST00000483754.1:c.975G>A (TRIM59-IFT80) | ENSP00000456272.1:p.Ala325= | |
| ENST00000484963.5:c.117G>A (IFT80) | ENSP00000420260.1:p.Ala39= | |
| ENST00000486856.5:c.51G>A (IFT80) | ENSP00000417861.1:p.Ala17= | |
| ENST00000487943.5:n.1769-8552G>A (IFT80) | ||
| ENST00000496589.5:c.51G>A (IFT80) | ENSP00000420646.1:p.Ala17= | |
| ENST00000498409.5:c.462G>A (IFT80) | ENSP00000420001.1:p.Ala154= | |
| NM_001190241.1:c.51G>A (IFT80) | NP_001177170.1:p.Ala17= | |
| NM_001190242.1:c.51G>A (IFT80) | NP_001177171.1:p.Ala17= | |
| NM_020800.2:c.462G>A (IFT80) | NP_065851.1:p.Ala154= | |
| NR_148401.1:n.1170G>A (TRIM59-IFT80) | ||
| NR_148402.1:n.2706G>A (TRIM59-IFT80) | ||
| NR_148403.1:n.2973G>A (TRIM59-IFT80) | ||
| NM_020800.3:c.462G>A (IFT80) MANE Select | NP_065851.1:p.Ala154= | |
| NM_001190241.2:c.51G>A (IFT80) | NP_001177170.1:p.Ala17= | |
| NM_001190242.2:c.51G>A (IFT80) | NP_001177171.1:p.Ala17= |