Linked Data
ClinVar Variation Id:
2867783
ClinVar RCV Id:
RCV003640650
dbSNP Id:
rs201555272
ExAC:
17:4805401 C / A
gnomAD v2:
17-4805401-C-A
gnomAD v3:
17-4902106-C-A
gnomAD v4:
17-4902106-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4902106C>A , CM000679.2:g.4902106C>A | GRCh38 |
| NC_000017.10:g.4805401C>A , CM000679.1:g.4805401C>A | GRCh37 |
| NC_000017.9:g.4746180C>A | NCBI36 |
| NG_008029.2:g.5970G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381365.4:c.*1573C>A (C17orf107) MANE Select | ENSP00000370770.3:n.*1573C>A | |
| ENST00000649488.2:c.345-19G>T (CHRNE) MANE Select | ENSP00000497829.1:n.345-19G>T | |
| ENST00000649830.1:c.-589-19G>T (CHRNE) | ENSP00000496907.1:n.-589-19G>T | |
| ENST00000293780.4:c.345-19G>T (CHRNE) | ENSP00000293780.4:n.345-19G>T | |
| ENST00000381365.3:c.*1573C>A (C17orf107) | ENSP00000370770.3:n.*1573C>A | |
| ENST00000575637.1:n.166-19G>T (CHRNE) | ||
| NM_000080.3:c.345-19G>T (CHRNE) | NP_000071.1:n.345-19G>T | |
| NM_001145536.1:c.*1573C>A (C17orf107) | NP_001139008.1:n.*1573C>A | |
| XM_011523612.1:c.546+1600C>A (C17orf107) | XP_011521914.1:n.546+1600C>A | |
| XM_011523631.1:c.345-19G>T (CHRNE) | XP_011521933.1:n.345-19G>T | |
| NM_000080.4:c.345-19G>T (CHRNE) MANE Select | NP_000071.1:n.345-19G>T | |
| XM_017024115.1:c.309-19G>T (CHRNE) | XP_016879604.1:n.309-19G>T | |
| XR_001752421.1:n.1190-19G>T (CHRNE) | ||
| NM_001145536.2:c.*1573C>A (C17orf107) MANE Select | NP_001139008.1:n.*1573C>A |