Linked Data
ClinVar Variation Id:
2110976
ClinVar RCV Id:
RCV003023828
dbSNP Id:
rs762636530
ExAC:
22:37160040 G / A
gnomAD v2:
22-37160040-G-A
gnomAD v4:
22-36763996-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36763996G>A , CM000684.2:g.36763996G>A | GRCh38 |
| NC_000022.10:g.37160040G>A , CM000684.1:g.37160040G>A | GRCh37 |
| NC_000022.9:g.35489986G>A | NCBI36 |
| NG_034205.1:g.17138C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433985.7:c.275C>T (IFT27) MANE Select | ENSP00000393541.2:p.Thr92Ile | |
| ENST00000340630.9:c.272C>T (IFT27) | ENSP00000343593.5:p.Thr91Ile | |
| ENST00000415653.5:c.198C>T (IFT27) | ||
| ENST00000417951.6:c.392C>T (IFT27) | ENSP00000392016.2:p.Thr131Ile | |
| ENST00000430701.5:c.272C>T (IFT27) | ENSP00000390016.1:p.Thr91Ile | |
| ENST00000433985.6:c.275C>T (IFT27) | ENSP00000393541.2:p.Thr92Ile | |
| ENST00000440696.2:c.152C>T (IFT27) | ||
| ENST00000471809.5:n.690C>T (IFT27) | ||
| ENST00000495555.6:n.358C>T (IFT27) | ||
| NM_001177701.2:c.275C>T (IFT27) | NP_001171172.1:p.Thr92Ile | |
| NM_006860.4:c.272C>T (IFT27) | NP_006851.1:p.Thr91Ile | |
| XM_006724106.2:c.275C>T (IFT27) | XP_006724169.1:p.Thr92Ile | |
| NM_001363003.1:c.275C>T (IFT27) | NP_001349932.1:p.Thr92Ile | |
| NR_134623.1:n.238-2348G>A (CACNG2-DT) | ||
| XM_017028540.2:c.152C>T (IFT27) | XP_016884029.1:p.Thr51Ile | |
| NM_001177701.3:c.275C>T (IFT27) MANE Select | NP_001171172.1:p.Thr92Ile | |
| NM_001363003.2:c.275C>T (IFT27) | NP_001349932.1:p.Thr92Ile | |
| NM_006860.5:c.272C>T (IFT27) | NP_006851.1:p.Thr91Ile |