ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000126 (NFE)
Exomes Max Group AF
0.00000133 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.160357556A>T , CM000665.2:g.160357556A>T | GRCh38 |
| NC_000003.11:g.160075344A>T , CM000665.1:g.160075344A>T | GRCh37 |
| NC_000003.10:g.161558038A>T | NCBI36 |
| NG_022932.1:g.46977T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326448.12:c.572T>A (IFT80) MANE Select | ENSP00000312778.7:p.Ile191Asn | |
| ENST00000326448.11:c.572T>A (IFT80) | ENSP00000312778.7:p.Ile191Asn | |
| ENST00000465537.5:c.161T>A (IFT80) | ENSP00000418602.1:p.Ile54Asn | |
| ENST00000472773.5:n.586T>A (IFT80) | ||
| ENST00000475677.5:c.161T>A (IFT80) | ENSP00000419458.1:p.Ile54Asn | |
| ENST00000478460.5:n.279T>A (IFT80) | ||
| ENST00000483465.5:c.161T>A (IFT80) | ENSP00000418196.1:p.Ile54Asn | |
| ENST00000483754.1:c.1085T>A (TRIM59-IFT80) | ENSP00000456272.1:p.Ile362Asn | |
| ENST00000484963.5:c.177T>A (IFT80) | ENSP00000420260.1:n.177T>A | |
| ENST00000487943.5:n.1791T>A (IFT80) | ||
| ENST00000496589.5:c.161T>A (IFT80) | ENSP00000420646.1:p.Ile54Asn | |
| NM_001190241.1:c.161T>A (IFT80) | NP_001177170.1:p.Ile54Asn | |
| NM_001190242.1:c.161T>A (IFT80) | NP_001177171.1:p.Ile54Asn | |
| NM_020800.2:c.572T>A (IFT80) | NP_065851.1:p.Ile191Asn | |
| NR_148401.1:n.1280T>A (TRIM59-IFT80) | ||
| NR_148402.1:n.2816T>A (TRIM59-IFT80) | ||
| NR_148403.1:n.3083T>A (TRIM59-IFT80) | ||
| NM_020800.3:c.572T>A (IFT80) MANE Select | NP_065851.1:p.Ile191Asn | |
| NM_001190241.2:c.161T>A (IFT80) | NP_001177170.1:p.Ile54Asn | |
| NM_001190242.2:c.161T>A (IFT80) | NP_001177171.1:p.Ile54Asn |