Linked Data
ClinVar Variation Id:
2485850
ClinVar RCV Id:
RCV003205535
dbSNP Id:
rs776212229
ExAC:
3:160000353 T / C
gnomAD v2:
3-160000353-T-C
gnomAD v4:
3-160282565-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.160282565T>C , CM000665.2:g.160282565T>C | GRCh38 |
| NC_000003.11:g.160000353T>C , CM000665.1:g.160000353T>C | GRCh37 |
| NC_000003.10:g.161483047T>C | NCBI36 |
| NG_022932.1:g.121968A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326448.12:c.1429A>G (IFT80) MANE Select | ENSP00000312778.7:p.Arg477Gly | |
| ENST00000326448.11:c.1429A>G (IFT80) | ENSP00000312778.7:p.Arg477Gly | |
| ENST00000483465.5:c.1018A>G (IFT80) | ENSP00000418196.1:p.Arg340Gly | |
| ENST00000483754.1:c.1942A>G (TRIM59-IFT80) | ENSP00000456272.1:p.Arg648Gly | |
| ENST00000487943.5:n.2648A>G (IFT80) | ||
| ENST00000496589.5:c.1018A>G (IFT80) | ENSP00000420646.1:p.Arg340Gly | |
| NM_001190241.1:c.1018A>G (IFT80) | NP_001177170.1:p.Arg340Gly | |
| NM_001190242.1:c.1018A>G (IFT80) | NP_001177171.1:p.Arg340Gly | |
| NM_020800.2:c.1429A>G (IFT80) | NP_065851.1:p.Arg477Gly | |
| XR_924138.1:n.2900-7107T>C (C3orf80) | ||
| NR_148401.1:n.2137A>G (TRIM59-IFT80) | ||
| NR_148402.1:n.3673A>G (TRIM59-IFT80) | ||
| NR_148403.1:n.3940A>G (TRIM59-IFT80) | ||
| NM_020800.3:c.1429A>G (IFT80) MANE Select | NP_065851.1:p.Arg477Gly | |
| NM_001190241.2:c.1018A>G (IFT80) | NP_001177170.1:p.Arg340Gly | |
| NM_001190242.2:c.1018A>G (IFT80) | NP_001177171.1:p.Arg340Gly |