Linked Data
ClinVar Variation Id:
746130
ClinVar RCV Id:
RCV000922714
dbSNP Id:
rs754300536
ExAC:
17:4805247 C / T
gnomAD v2:
17-4805247-C-T
gnomAD v3:
17-4901952-C-T
gnomAD v4:
17-4901952-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4901952C>T , CM000679.2:g.4901952C>T | GRCh38 |
| NC_000017.10:g.4805247C>T , CM000679.1:g.4805247C>T | GRCh37 |
| NC_000017.9:g.4746026C>T | NCBI36 |
| NG_008029.2:g.6124G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381365.4:c.*1419C>T (C17orf107) MANE Select | ENSP00000370770.3:n.*1419C>T | |
| ENST00000649488.2:c.480G>A (CHRNE) MANE Select | ENSP00000497829.1:p.Gln160= | |
| ENST00000649830.1:c.-454G>A (CHRNE) | ENSP00000496907.1:n.-454G>A | |
| ENST00000293780.4:c.480G>A (CHRNE) | ENSP00000293780.4:p.Gln160= | |
| ENST00000381365.3:c.*1419C>T (C17orf107) | ENSP00000370770.3:n.*1419C>T | |
| ENST00000575637.1:n.274+27G>A (CHRNE) | ||
| NM_000080.3:c.480G>A (CHRNE) | NP_000071.1:p.Gln160= | |
| NM_001145536.1:c.*1419C>T (C17orf107) | NP_001139008.1:n.*1419C>T | |
| XM_011523612.1:c.546+1446C>T (C17orf107) | XP_011521914.1:n.546+1446C>T | |
| XM_011523631.1:c.480G>A (CHRNE) | XP_011521933.1:p.Gln160= | |
| NM_000080.4:c.480G>A (CHRNE) MANE Select | NP_000071.1:p.Gln160= | |
| XM_017024115.1:c.444G>A (CHRNE) | XP_016879604.1:p.Gln148= | |
| XR_001752421.1:n.1325G>A (CHRNE) | ||
| NM_001145536.2:c.*1419C>T (C17orf107) MANE Select | NP_001139008.1:n.*1419C>T |