Revel Score:
ENST00000293780
0.855
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4901077T>G , CM000679.2:g.4901077T>G | GRCh38 |
| NC_000017.10:g.4804372T>G , CM000679.1:g.4804372T>G | GRCh37 |
| NC_000017.9:g.4745151T>G | NCBI36 |
| NG_008029.2:g.6999A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381365.4:c.*544T>G (C17orf107) MANE Select | ENSP00000370770.3:n.*544T>G | |
| ENST00000649488.2:c.715A>C (CHRNE) MANE Select | ENSP00000497829.1:p.Lys239Gln | |
| ENST00000649830.1:c.-219A>C (CHRNE) | ENSP00000496907.1:n.-219A>C | |
| ENST00000293780.4:c.715A>C (CHRNE) | ENSP00000293780.4:p.Lys239Gln | |
| ENST00000381365.3:c.*544T>G (C17orf107) | ENSP00000370770.3:n.*544T>G | |
| ENST00000572438.1:n.401A>C (CHRNE) | ||
| ENST00000575637.1:n.489A>C (CHRNE) | ||
| NM_000080.3:c.715A>C (CHRNE) | NP_000071.1:p.Lys239Gln | |
| NM_001145536.1:c.*544T>G (C17orf107) | NP_001139008.1:n.*544T>G | |
| XM_011523612.1:c.546+571T>G (C17orf107) | XP_011521914.1:n.546+571T>G | |
| XM_011523631.1:c.715A>C (CHRNE) | XP_011521933.1:p.Lys239Gln | |
| NM_000080.4:c.715A>C (CHRNE) MANE Select | NP_000071.1:p.Lys239Gln | |
| XM_017024115.1:c.679A>C (CHRNE) | XP_016879604.1:p.Lys227Gln | |
| XR_001752421.1:n.1560A>C (CHRNE) | ||
| NM_001145536.2:c.*544T>G (C17orf107) MANE Select | NP_001139008.1:n.*544T>G |