Linked Data
ClinVar Variation Id:
729924
dbSNP Id:
rs144207552
ExAC:
17:4802847 C / T
gnomAD v2:
17-4802847-C-T
gnomAD v3:
17-4899552-C-T
gnomAD v4:
17-4899552-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899552C>T , CM000679.2:g.4899552C>T | GRCh38 |
| NC_000017.10:g.4802847C>T , CM000679.1:g.4802847C>T | GRCh37 |
| NC_000017.9:g.4743626C>T | NCBI36 |
| NG_008029.2:g.8524G>A | |
| NG_028005.1:g.71213C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381365.4:c.-211C>T (C17orf107) MANE Select | ENSP00000370770.3:n.-211C>T | |
| ENST00000649488.2:c.948G>A (CHRNE) MANE Select | ENSP00000497829.1:p.Thr316= | |
| ENST00000649830.1:c.15G>A (CHRNE) | ENSP00000496907.1:p.Thr5= | |
| ENST00000652550.1:n.678G>A (CHRNE) | ||
| ENST00000293780.4:c.948G>A (CHRNE) | ENSP00000293780.4:p.Thr316= | |
| ENST00000381365.3:c.-211C>T (C17orf107) | ENSP00000370770.3:n.-211C>T | |
| ENST00000521575.1:c.-211C>T (C17orf107) | ENSP00000429241.1:n.-211C>T | |
| ENST00000572438.1:n.634G>A (CHRNE) | ||
| NM_000080.3:c.948G>A (CHRNE) | NP_000071.1:p.Thr316= | |
| XM_011523612.1:c.-211C>T (C17orf107) | XP_011521914.1:n.-211C>T | |
| XM_011523631.1:c.833G>A (CHRNE) | XP_011521933.1:p.Arg278His | |
| NM_000080.4:c.948G>A (CHRNE) MANE Select | NP_000071.1:p.Thr316= | |
| XM_017024115.1:c.912G>A (CHRNE) | XP_016879604.1:p.Thr304= | |
| XR_001752421.1:n.1678G>A (CHRNE) | ||
| NM_001145536.2:c.-211C>T (C17orf107) MANE Select | NP_001139008.1:n.-211C>T |