Linked Data
ClinVar Variation Id:
786380
ClinVar RCV Id:
RCV000968422
dbSNP Id:
rs78099126
ExAC:
22:37158985 G / A
gnomAD v2:
22-37158985-G-A
gnomAD v3:
22-36762941-G-A
gnomAD v4:
22-36762941-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36762941G>A , CM000684.2:g.36762941G>A | GRCh38 |
| NC_000022.10:g.37158985G>A , CM000684.1:g.37158985G>A | GRCh37 |
| NC_000022.9:g.35488931G>A | NCBI36 |
| NG_034205.1:g.18193C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433985.7:c.425C>T (IFT27) MANE Select | ENSP00000393541.2:p.Ala142Val | |
| ENST00000340630.9:c.422C>T (IFT27) | ENSP00000343593.5:p.Ala141Val | |
| ENST00000415653.5:c.348C>T (IFT27) | ||
| ENST00000417951.6:c.542C>T (IFT27) | ENSP00000392016.2:p.Ala181Val | |
| ENST00000433985.6:c.425C>T (IFT27) | ENSP00000393541.2:p.Ala142Val | |
| ENST00000471809.5:n.1745C>T (IFT27) | ||
| ENST00000495555.6:n.508C>T (IFT27) | ||
| NM_001177701.2:c.425C>T (IFT27) | NP_001171172.1:p.Ala142Val | |
| NM_006860.4:c.422C>T (IFT27) | NP_006851.1:p.Ala141Val | |
| XM_006724106.2:c.425C>T (IFT27) | XP_006724169.1:p.Ala142Val | |
| NM_001363003.1:c.425C>T (IFT27) | NP_001349932.1:p.Ala142Val | |
| NR_134623.1:n.238-3403G>A (CACNG2-DT) | ||
| XM_017028540.2:c.302C>T (IFT27) | XP_016884029.1:p.Ala101Val | |
| NM_001177701.3:c.425C>T (IFT27) MANE Select | NP_001171172.1:p.Ala142Val | |
| NM_001363003.2:c.425C>T (IFT27) | NP_001349932.1:p.Ala142Val | |
| NM_006860.5:c.422C>T (IFT27) | NP_006851.1:p.Ala141Val |