Linked Data
ClinVar Variation Id:
2704290
ClinVar RCV Id:
RCV003586694
dbSNP Id:
rs758820425
gnomAD v2:
3-160000264-A-G
gnomAD v4:
3-160282476-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.160282476A>G , CM000665.2:g.160282476A>G | GRCh38 |
| NC_000003.11:g.160000264A>G , CM000665.1:g.160000264A>G | GRCh37 |
| NC_000003.10:g.161482958A>G | NCBI36 |
| NG_022932.1:g.122057T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326448.12:c.1516+2T>C (IFT80) MANE Select | ENSP00000312778.7:n.1516+2T>C | |
| ENST00000326448.11:c.1516+2T>C (IFT80) | ENSP00000312778.7:n.1516+2T>C | |
| ENST00000483465.5:c.1105+2T>C (IFT80) | ENSP00000418196.1:n.1105+2T>C | |
| ENST00000483754.1:c.2029+2T>C (TRIM59-IFT80) | ENSP00000456272.1:n.2029+2T>C | |
| ENST00000487943.5:n.2735+2T>C (IFT80) | ||
| ENST00000496589.5:c.1105+2T>C (IFT80) | ENSP00000420646.1:n.1105+2T>C | |
| NM_001190241.1:c.1105+2T>C (IFT80) | NP_001177170.1:n.1105+2T>C | |
| NM_001190242.1:c.1105+2T>C (IFT80) | NP_001177171.1:n.1105+2T>C | |
| NM_020800.2:c.1516+2T>C (IFT80) | NP_065851.1:n.1516+2T>C | |
| XR_924138.1:n.2900-7196A>G (C3orf80) | ||
| NR_148401.1:n.2224+2T>C (TRIM59-IFT80) | ||
| NR_148402.1:n.3760+2T>C (TRIM59-IFT80) | ||
| NR_148403.1:n.4027+2T>C (TRIM59-IFT80) | ||
| NM_020800.3:c.1516+2T>C (IFT80) MANE Select | NP_065851.1:n.1516+2T>C | |
| NM_001190241.2:c.1105+2T>C (IFT80) | NP_001177170.1:n.1105+2T>C | |
| NM_001190242.2:c.1105+2T>C (IFT80) | NP_001177171.1:n.1105+2T>C |