Linked Data
ClinVar Variation Id:
140462
ClinVar RCV Id:
RCV000128641
dbSNP Id:
rs587777546
gnomAD v3:
22-36763972-C-T
gnomAD v4:
22-36763972-C-T
PubMed:
PMID:24488770
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36763972C>T , CM000684.2:g.36763972C>T | GRCh38 |
| NC_000022.10:g.37160016C>T , CM000684.1:g.37160016C>T | GRCh37 |
| NC_000022.9:g.35489962C>T | NCBI36 |
| NG_034205.1:g.17162G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433985.7:c.299G>A (IFT27) MANE Select | ENSP00000393541.2:p.Cys100Tyr | |
| ENST00000340630.9:c.296G>A (IFT27) | ENSP00000343593.5:p.Cys99Tyr | |
| ENST00000415653.5:c.222G>A (IFT27) | ||
| ENST00000417951.6:c.416G>A (IFT27) | ENSP00000392016.2:p.Cys139Tyr | |
| ENST00000430701.5:c.296G>A (IFT27) | ENSP00000390016.1:p.Cys99Tyr | |
| ENST00000433985.6:c.299G>A (IFT27) | ENSP00000393541.2:p.Cys100Tyr | |
| ENST00000471809.5:n.714G>A (IFT27) | ||
| ENST00000495555.6:n.382G>A (IFT27) | ||
| NM_001177701.2:c.299G>A (IFT27) | NP_001171172.1:p.Cys100Tyr | |
| NM_006860.4:c.296G>A (IFT27) | NP_006851.1:p.Cys99Tyr | |
| XM_006724106.2:c.299G>A (IFT27) | XP_006724169.1:p.Cys100Tyr | |
| NM_001363003.1:c.299G>A (IFT27) | NP_001349932.1:p.Cys100Tyr | |
| NR_134623.1:n.238-2372C>T (CACNG2-DT) | ||
| XM_017028540.2:c.176G>A (IFT27) | XP_016884029.1:p.Cys59Tyr | |
| NM_001177701.3:c.299G>A (IFT27) MANE Select | NP_001171172.1:p.Cys100Tyr | |
| NM_001363003.2:c.299G>A (IFT27) | NP_001349932.1:p.Cys100Tyr | |
| NM_006860.5:c.296G>A (IFT27) | NP_006851.1:p.Cys99Tyr |