Revel Score:
ENST00000293780
0.923
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4900805G>A , CM000679.2:g.4900805G>A | GRCh38 |
| NC_000017.10:g.4804100G>A , CM000679.1:g.4804100G>A | GRCh37 |
| NC_000017.9:g.4744879G>A | NCBI36 |
| NG_008029.2:g.7271C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381365.4:c.*272G>A (C17orf107) MANE Select | ENSP00000370770.3:n.*272G>A | |
| ENST00000649488.2:c.905C>T (CHRNE) MANE Select | ENSP00000497829.1:p.Pro302Leu | |
| ENST00000649830.1:c.-29C>T (CHRNE) | ENSP00000496907.1:n.-29C>T | |
| ENST00000293780.4:c.905C>T (CHRNE) | ENSP00000293780.4:p.Pro302Leu | |
| ENST00000381365.3:c.*272G>A (C17orf107) | ENSP00000370770.3:n.*272G>A | |
| ENST00000572438.1:n.591C>T (CHRNE) | ||
| NM_000080.3:c.905C>T (CHRNE) | NP_000071.1:p.Pro302Leu | |
| NM_001145536.1:c.*272G>A (C17orf107) | NP_001139008.1:n.*272G>A | |
| XM_011523612.1:c.546+299G>A (C17orf107) | XP_011521914.1:n.546+299G>A | |
| XM_011523631.1:c.802+185C>T (CHRNE) | XP_011521933.1:n.802+185C>T | |
| NM_000080.4:c.905C>T (CHRNE) MANE Select | NP_000071.1:p.Pro302Leu | |
| XM_017024115.1:c.869C>T (CHRNE) | XP_016879604.1:p.Pro290Leu | |
| XR_001752421.1:n.1647+185C>T (CHRNE) | ||
| NM_001145536.2:c.*272G>A (C17orf107) MANE Select | NP_001139008.1:n.*272G>A |