Linked Data
ClinVar Variation Id:
857948
ClinVar RCV Id:
RCV001063722
dbSNP Id:
rs780844069
ExAC:
22:37158950 C / T
gnomAD v2:
22-37158950-C-T
gnomAD v3:
22-36762906-C-T
gnomAD v4:
22-36762906-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36762906C>T , CM000684.2:g.36762906C>T | GRCh38 |
| NC_000022.10:g.37158950C>T , CM000684.1:g.37158950C>T | GRCh37 |
| NC_000022.9:g.35488896C>T | NCBI36 |
| NG_034205.1:g.18228G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433985.7:c.460G>A (IFT27) MANE Select | ENSP00000393541.2:p.Val154Met | |
| ENST00000340630.9:c.457G>A (IFT27) | ENSP00000343593.5:p.Val153Met | |
| ENST00000415653.5:c.383G>A (IFT27) | ||
| ENST00000433985.6:c.460G>A (IFT27) | ENSP00000393541.2:p.Val154Met | |
| ENST00000471809.5:n.1780G>A (IFT27) | ||
| ENST00000495555.6:n.543G>A (IFT27) | ||
| NM_001177701.2:c.460G>A (IFT27) | NP_001171172.1:p.Val154Met | |
| NM_006860.4:c.457G>A (IFT27) | NP_006851.1:p.Val153Met | |
| XM_006724106.2:c.460G>A (IFT27) | XP_006724169.1:p.Val154Met | |
| NM_001363003.1:c.460G>A (IFT27) | NP_001349932.1:p.Val154Met | |
| NR_134623.1:n.238-3438C>T (CACNG2-DT) | ||
| XM_017028540.2:c.337G>A (IFT27) | XP_016884029.1:p.Val113Met | |
| NM_001177701.3:c.460G>A (IFT27) MANE Select | NP_001171172.1:p.Val154Met | |
| NM_001363003.2:c.460G>A (IFT27) | NP_001349932.1:p.Val154Met | |
| NM_006860.5:c.457G>A (IFT27) | NP_006851.1:p.Val153Met |