ClinVar Variation:
COSMIC:
COSM4584072
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00031056 (NFE)
Genomes Max Group AF
0.00015891 (NFE)
Exomes Max Group AF
0.00031511 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.160319910A>G , CM000665.2:g.160319910A>G | GRCh38 |
| NC_000003.11:g.160037698A>G , CM000665.1:g.160037698A>G | GRCh37 |
| NC_000003.10:g.161520392A>G | NCBI36 |
| NG_022932.1:g.84623T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326448.12:c.807T>C (IFT80) MANE Select | ENSP00000312778.7:p.Thr269= | |
| ENST00000326448.11:c.807T>C (IFT80) | ENSP00000312778.7:p.Thr269= | |
| ENST00000461213.1:n.238T>C (IFT80) | ||
| ENST00000472555.5:c.344T>C (IFT80) | ||
| ENST00000478460.5:n.514T>C (IFT80) | ||
| ENST00000483465.5:c.396T>C (IFT80) | ENSP00000418196.1:p.Thr132= | |
| ENST00000483754.1:c.1320T>C (TRIM59-IFT80) | ENSP00000456272.1:p.Thr440= | |
| ENST00000487943.5:n.2026T>C (IFT80) | ||
| ENST00000496589.5:c.396T>C (IFT80) | ENSP00000420646.1:p.Thr132= | |
| NM_001190241.1:c.396T>C (IFT80) | NP_001177170.1:p.Thr132= | |
| NM_001190242.1:c.396T>C (IFT80) | NP_001177171.1:p.Thr132= | |
| NM_020800.2:c.807T>C (IFT80) | NP_065851.1:p.Thr269= | |
| NR_148401.1:n.1515T>C (TRIM59-IFT80) | ||
| NR_148402.1:n.3051T>C (TRIM59-IFT80) | ||
| NR_148403.1:n.3318T>C (TRIM59-IFT80) | ||
| NM_020800.3:c.807T>C (IFT80) MANE Select | NP_065851.1:p.Thr269= | |
| NM_001190241.2:c.396T>C (IFT80) | NP_001177170.1:p.Thr132= | |
| NM_001190242.2:c.396T>C (IFT80) | NP_001177171.1:p.Thr132= |