Revel Score:
ENST00000293780
0.917
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002746 (NFE)
Exomes Max Group AF
0.00002985 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4900998G>A , CM000679.2:g.4900998G>A | GRCh38 |
| NC_000017.10:g.4804293G>A , CM000679.1:g.4804293G>A | GRCh37 |
| NC_000017.9:g.4745072G>A | NCBI36 |
| NG_008029.2:g.7078C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381365.4:c.*465G>A (C17orf107) MANE Select | ENSP00000370770.3:n.*465G>A | |
| ENST00000649488.2:c.794C>T (CHRNE) MANE Select | ENSP00000497829.1:p.Pro265Leu | |
| ENST00000649830.1:c.-140C>T (CHRNE) | ENSP00000496907.1:n.-140C>T | |
| ENST00000293780.4:c.794C>T (CHRNE) | ENSP00000293780.4:p.Pro265Leu | |
| ENST00000381365.3:c.*465G>A (C17orf107) | ENSP00000370770.3:n.*465G>A | |
| ENST00000572438.1:n.480C>T (CHRNE) | ||
| NM_000080.3:c.794C>T (CHRNE) | NP_000071.1:p.Pro265Leu | |
| NM_001145536.1:c.*465G>A (C17orf107) | NP_001139008.1:n.*465G>A | |
| XM_011523612.1:c.546+492G>A (C17orf107) | XP_011521914.1:n.546+492G>A | |
| XM_011523631.1:c.794C>T (CHRNE) | XP_011521933.1:p.Pro265Leu | |
| NM_000080.4:c.794C>T (CHRNE) MANE Select | NP_000071.1:p.Pro265Leu | |
| XM_017024115.1:c.758C>T (CHRNE) | XP_016879604.1:p.Pro253Leu | |
| XR_001752421.1:n.1639C>T (CHRNE) | ||
| NM_001145536.2:c.*465G>A (C17orf107) MANE Select | NP_001139008.1:n.*465G>A |