Linked Data
ClinVar Variation Id:
1462480
ClinVar RCV Id:
RCV001954269
dbSNP Id:
rs112218090
gnomAD v4:
22-36762951-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36762951G>C , CM000684.2:g.36762951G>C | GRCh38 |
| NC_000022.10:g.37158995G>C , CM000684.1:g.37158995G>C | GRCh37 |
| NC_000022.9:g.35488941G>C | NCBI36 |
| NG_034205.1:g.18183C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433985.7:c.415C>G (IFT27) MANE Select | ENSP00000393541.2:p.Arg139Gly | |
| ENST00000340630.9:c.412C>G (IFT27) | ENSP00000343593.5:p.Arg138Gly | |
| ENST00000415653.5:c.338C>G (IFT27) | ||
| ENST00000417951.6:c.532C>G (IFT27) | ENSP00000392016.2:p.Arg178Gly | |
| ENST00000433985.6:c.415C>G (IFT27) | ENSP00000393541.2:p.Arg139Gly | |
| ENST00000471809.5:n.1735C>G (IFT27) | ||
| ENST00000495555.6:n.498C>G (IFT27) | ||
| NM_001177701.2:c.415C>G (IFT27) | NP_001171172.1:p.Arg139Gly | |
| NM_006860.4:c.412C>G (IFT27) | NP_006851.1:p.Arg138Gly | |
| XM_006724106.2:c.415C>G (IFT27) | XP_006724169.1:p.Arg139Gly | |
| NM_001363003.1:c.415C>G (IFT27) | NP_001349932.1:p.Arg139Gly | |
| NR_134623.1:n.238-3393G>C (CACNG2-DT) | ||
| XM_017028540.2:c.292C>G (IFT27) | XP_016884029.1:p.Arg98Gly | |
| NM_001177701.3:c.415C>G (IFT27) MANE Select | NP_001171172.1:p.Arg139Gly | |
| NM_001363003.2:c.415C>G (IFT27) | NP_001349932.1:p.Arg139Gly | |
| NM_006860.5:c.412C>G (IFT27) | NP_006851.1:p.Arg138Gly |