Revel Score:
ENST00000425336
0.329
ENST00000431216
0.329
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000878 (NFE)
Exomes Max Group AF
0.00000852 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.32602299G>C , CM000683.2:g.32602299G>C | GRCh38 |
| NC_000021.8:g.33974609G>C , CM000683.1:g.33974609G>C | GRCh37 |
| NC_000021.7:g.32896480G>C | NCBI36 |
| NG_033839.1:g.15310C>G | |
| NG_033839.2:g.15310C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290155.8:c.735C>G (CFAP298) MANE Select | ENSP00000290155.3:p.Tyr245Ter | |
| ENST00000553001.2:c.378+862C>G (CFAP298-TCP10L) | ENSP00000446874.2:n.378+862C>G | |
| ENST00000673072.2:c.666+862C>G (CFAP298-TCP10L) | ENSP00000500800.2:n.666+862C>G | |
| ENST00000673633.1:c.666+862C>G (CFAP298-TCP10L) | ENSP00000501272.1:n.666+862C>G | |
| ENST00000673672.1:n.441+862C>G (CFAP298-TCP10L) | ||
| ENST00000673694.1:c.193+862C>G (CFAP298-TCP10L) | ||
| ENST00000673722.1:c.666+862C>G (CFAP298-TCP10L) | ENSP00000501143.1:n.666+862C>G | |
| ENST00000673727.1:c.666+862C>G (CFAP298-TCP10L) | ENSP00000501061.1:n.666+862C>G | |
| ENST00000673740.1:c.200+862C>G (CFAP298-TCP10L) | ||
| ENST00000673799.1:n.519+862C>G (CFAP298-TCP10L) | ||
| ENST00000673807.1:c.666+862C>G (CFAP298-TCP10L) | ENSP00000501088.1:n.666+862C>G | |
| ENST00000673870.1:c.209+1826C>G (CFAP298-TCP10L) | ||
| ENST00000673879.1:c.666+862C>G (CFAP298-TCP10L) | ENSP00000500977.1:n.666+862C>G | |
| ENST00000673900.1:c.666+862C>G (CFAP298-TCP10L) | ENSP00000501184.1:n.666+862C>G | |
| ENST00000673945.1:c.666+862C>G (CFAP298-TCP10L) | ENSP00000501020.1:n.666+862C>G | |
| ENST00000673979.1:n.434+862C>G (CFAP298-TCP10L) | ||
| ENST00000673984.1:c.52+862C>G (CFAP298-TCP10L) | ||
| ENST00000673985.1:c.666+862C>G (CFAP298-TCP10L) | ENSP00000500984.1:n.666+862C>G | |
| ENST00000674025.1:c.666+862C>G (CFAP298-TCP10L) | ENSP00000501264.1:n.666+862C>G | |
| ENST00000674042.1:c.666+862C>G (CFAP298-TCP10L) | ENSP00000501000.1:n.666+862C>G | |
| ENST00000674072.1:c.666+862C>G (CFAP298-TCP10L) | ENSP00000501221.1:n.666+862C>G | |
| ENST00000674122.1:c.666+862C>G (CFAP298-TCP10L) | ENSP00000501276.1:n.666+862C>G | |
| ENST00000674123.1:c.666+862C>G (CFAP298-TCP10L) | ENSP00000501038.1:n.666+862C>G | |
| ENST00000290155.7:c.735C>G (CFAP298) | ENSP00000290155.3:p.Tyr245Ter | |
| ENST00000300260.7:c.*250C>G (CFAP298) | ENSP00000300260.7:n.*250C>G | |
| ENST00000382549.8:c.*790C>G (CFAP298) | ENSP00000371989.4:n.*790C>G | |
| ENST00000425336.1:c.277C>G (CFAP298) | ||
| ENST00000431216.5:c.638C>G (CFAP298-TCP10L) | ||
| ENST00000431599.1:c.77+862C>G (CFAP298) | ||
| ENST00000440966.5:c.667-326C>G (CFAP298) | ENSP00000411467.1:n.667-326C>G | |
| ENST00000483315.1:n.1383C>G (CFAP298) | ||
| ENST00000553001.1:c.666+862C>G (CFAP298-TCP10L) | ENSP00000446874.1:n.666+862C>G | |
| NM_021254.2:c.735C>G (CFAP298) | NP_067077.1:p.Tyr245Ter | |
| NR_036552.1:n.1027C>G (CFAP298) | ||
| NM_001350334.1:c.438C>G (CFAP298) | NP_001337263.1:p.Tyr146Ter | |
| NM_001350335.1:c.*790C>G (CFAP298) | NP_001337264.1:n.*790C>G | |
| NM_001350336.1:c.667-326C>G (CFAP298) | NP_001337265.1:n.667-326C>G | |
| NM_001350337.1:c.735C>G (CFAP298) | NP_001337266.1:p.Tyr245Ter | |
| NM_001350338.1:c.666+862C>G (CFAP298-TCP10L) | NP_001337267.1:n.666+862C>G | |
| NM_021254.3:c.735C>G (CFAP298) | NP_067077.1:p.Tyr245Ter | |
| NR_146638.1:n.1294+862C>G (CFAP298-TCP10L) | ||
| NR_146639.1:n.1294+862C>G (CFAP298-TCP10L) | ||
| NM_021254.4:c.735C>G (CFAP298) MANE Select | NP_067077.1:p.Tyr245Ter | |
| NM_001350334.2:c.438C>G (CFAP298) | NP_001337263.1:p.Tyr146Ter | |
| NM_001350336.2:c.667-326C>G (CFAP298) | NP_001337265.1:n.667-326C>G | |
| NM_001350337.2:c.735C>G (CFAP298) | NP_001337266.1:p.Tyr245Ter | |
| NM_001350338.2:c.666+862C>G (CFAP298-TCP10L) | NP_001337267.1:n.666+862C>G | |
| NR_146638.2:n.800+862C>G (CFAP298-TCP10L) | ||
| NR_146639.2:n.800+862C>G (CFAP298-TCP10L) | ||
| NM_001350335.2:c.*790C>G (CFAP298) | NP_001337264.1:n.*790C>G |