Linked Data
ClinVar Variation Id:
1434370
ClinVar RCV Id:
RCV001962415
dbSNP Id:
rs145066542
ExAC:
22:37154406 C / T
gnomAD v2:
22-37154406-C-T
gnomAD v3:
22-36758362-C-T
gnomAD v4:
22-36758362-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36758362C>T , CM000684.2:g.36758362C>T | GRCh38 |
| NC_000022.10:g.37154406C>T , CM000684.1:g.37154406C>T | GRCh37 |
| NC_000022.9:g.35484352C>T | NCBI36 |
| NG_034205.1:g.22772G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433985.7:c.510G>A (IFT27) MANE Select | ENSP00000393541.2:p.Gln170= | |
| ENST00000340630.9:c.507G>A (IFT27) | ENSP00000343593.5:p.Gln169= | |
| ENST00000415653.5:c.509G>A (IFT27) | ||
| ENST00000433985.6:c.510G>A (IFT27) | ENSP00000393541.2:p.Gln170= | |
| ENST00000471809.5:n.6324G>A (IFT27) | ||
| ENST00000474616.5:n.307G>A (IFT27) | ||
| ENST00000495555.6:n.593G>A (IFT27) | ||
| ENST00000495987.5:n.210G>A (IFT27) | ||
| NM_001177701.2:c.510G>A (IFT27) | NP_001171172.1:p.Gln170= | |
| NM_006860.4:c.507G>A (IFT27) | NP_006851.1:p.Gln169= | |
| XM_006724106.2:c.510G>A (IFT27) | XP_006724169.1:p.Gln170= | |
| NM_001363003.1:c.510G>A (IFT27) | NP_001349932.1:p.Gln170= | |
| NR_134623.1:n.238-7982C>T (CACNG2-DT) | ||
| XM_017028540.2:c.387G>A (IFT27) | XP_016884029.1:p.Gln129= | |
| NM_001177701.3:c.510G>A (IFT27) MANE Select | NP_001171172.1:p.Gln170= | |
| NM_001363003.2:c.510G>A (IFT27) | NP_001349932.1:p.Gln170= | |
| NM_006860.5:c.507G>A (IFT27) | NP_006851.1:p.Gln169= |