Revel Score:
ENST00000553001
0.614
ENST00000440966
0.614
ENST00000382549
0.614
ENST00000290155 (MANE Select)
0.614
ENST00000543202
0.614
ENST00000540881
0.614
ENST00000458138
0.614
ENST00000431216
0.337
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.32607716G>T , CM000683.2:g.32607716G>T | GRCh38 |
| NC_000021.8:g.33980026G>T , CM000683.1:g.33980026G>T | GRCh37 |
| NC_000021.7:g.32901897G>T | NCBI36 |
| NG_033839.1:g.9893C>A | |
| NG_033839.2:g.9893C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290155.8:c.308C>A (CFAP298) MANE Select | ENSP00000290155.3:p.Ala103Asp | |
| ENST00000553001.2:c.20C>A (CFAP298-TCP10L) | ENSP00000446874.2:p.Ala7Asp | |
| ENST00000673072.2:c.308C>A (CFAP298-TCP10L) | ENSP00000500800.2:p.Ala103Asp | |
| ENST00000673633.1:c.308C>A (CFAP298-TCP10L) | ENSP00000501272.1:p.Ala103Asp | |
| ENST00000673722.1:c.308C>A (CFAP298-TCP10L) | ENSP00000501143.1:p.Ala103Asp | |
| ENST00000673727.1:c.308C>A (CFAP298-TCP10L) | ENSP00000501061.1:p.Ala103Asp | |
| ENST00000673807.1:c.308C>A (CFAP298-TCP10L) | ENSP00000501088.1:p.Ala103Asp | |
| ENST00000673879.1:c.308C>A (CFAP298-TCP10L) | ENSP00000500977.1:p.Ala103Asp | |
| ENST00000673900.1:c.308C>A (CFAP298-TCP10L) | ENSP00000501184.1:p.Ala103Asp | |
| ENST00000673945.1:c.308C>A (CFAP298-TCP10L) | ENSP00000501020.1:p.Ala103Asp | |
| ENST00000673985.1:c.308C>A (CFAP298-TCP10L) | ENSP00000500984.1:p.Ala103Asp | |
| ENST00000674025.1:c.308C>A (CFAP298-TCP10L) | ENSP00000501264.1:p.Ala103Asp | |
| ENST00000674042.1:c.308C>A (CFAP298-TCP10L) | ENSP00000501000.1:p.Ala103Asp | |
| ENST00000674072.1:c.308C>A (CFAP298-TCP10L) | ENSP00000501221.1:p.Ala103Asp | |
| ENST00000674122.1:c.308C>A (CFAP298-TCP10L) | ENSP00000501276.1:p.Ala103Asp | |
| ENST00000674123.1:c.308C>A (CFAP298-TCP10L) | ENSP00000501038.1:p.Ala103Asp | |
| ENST00000290155.7:c.308C>A (CFAP298) | ENSP00000290155.3:p.Ala103Asp | |
| ENST00000300260.7:c.307+2122C>A (CFAP298) | ENSP00000300260.7:n.307+2122C>A | |
| ENST00000382549.8:c.308C>A (CFAP298) | ENSP00000371989.4:p.Ala103Asp | |
| ENST00000431216.5:c.211C>A (CFAP298-TCP10L) | ||
| ENST00000440966.5:c.308C>A (CFAP298) | ENSP00000411467.1:p.Ala103Asp | |
| ENST00000458138.1:c.257C>A (CFAP298) | ENSP00000393104.1:p.Ala86Asp | |
| ENST00000553001.1:c.308C>A (CFAP298-TCP10L) | ENSP00000446874.1:p.Ala103Asp | |
| NM_021254.2:c.308C>A (CFAP298) | NP_067077.1:p.Ala103Asp | |
| NR_036552.1:n.667+2122C>A (CFAP298) | ||
| NM_001350334.1:c.78+2122C>A (CFAP298) | NP_001337263.1:n.78+2122C>A | |
| NM_001350335.1:c.308C>A (CFAP298) | NP_001337264.1:p.Ala103Asp | |
| NM_001350336.1:c.308C>A (CFAP298) | NP_001337265.1:p.Ala103Asp | |
| NM_001350337.1:c.308C>A (CFAP298) | NP_001337266.1:p.Ala103Asp | |
| NM_001350338.1:c.308C>A (CFAP298-TCP10L) | NP_001337267.1:p.Ala103Asp | |
| NM_021254.3:c.308C>A (CFAP298) | NP_067077.1:p.Ala103Asp | |
| NR_146638.1:n.936C>A (CFAP298-TCP10L) | ||
| NR_146639.1:n.936C>A (CFAP298-TCP10L) | ||
| NM_021254.4:c.308C>A (CFAP298) MANE Select | NP_067077.1:p.Ala103Asp | |
| NM_001350334.2:c.78+2122C>A (CFAP298) | NP_001337263.1:n.78+2122C>A | |
| NM_001350336.2:c.308C>A (CFAP298) | NP_001337265.1:p.Ala103Asp | |
| NM_001350337.2:c.308C>A (CFAP298) | NP_001337266.1:p.Ala103Asp | |
| NM_001350338.2:c.308C>A (CFAP298-TCP10L) | NP_001337267.1:p.Ala103Asp | |
| NR_146638.2:n.442C>A (CFAP298-TCP10L) | ||
| NR_146639.2:n.442C>A (CFAP298-TCP10L) | ||
| NM_001350335.2:c.308C>A (CFAP298) | NP_001337264.1:p.Ala103Asp |