Linked Data
ClinVar Variation Id:
2141553
ClinVar RCV Id:
RCV003058607
dbSNP Id:
rs748799485
ExAC:
17:4805519 C / T
gnomAD v2:
17-4805519-C-T
gnomAD v4:
17-4902224-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4902224C>T , CM000679.2:g.4902224C>T | GRCh38 |
| NC_000017.10:g.4805519C>T , CM000679.1:g.4805519C>T | GRCh37 |
| NC_000017.9:g.4746298C>T | NCBI36 |
| NG_008029.2:g.5852G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381365.4:c.*1691C>T (C17orf107) MANE Select | ENSP00000370770.3:n.*1691C>T | |
| ENST00000649488.2:c.337G>A (CHRNE) MANE Select | ENSP00000497829.1:p.Glu113Lys | |
| ENST00000649830.1:c.-597G>A (CHRNE) | ENSP00000496907.1:n.-597G>A | |
| ENST00000293780.4:c.337G>A (CHRNE) | ENSP00000293780.4:p.Glu113Lys | |
| ENST00000381365.3:c.*1691C>T (C17orf107) | ENSP00000370770.3:n.*1691C>T | |
| ENST00000575637.1:n.158G>A (CHRNE) | ||
| NM_000080.3:c.337G>A (CHRNE) | NP_000071.1:p.Glu113Lys | |
| NM_001145536.1:c.*1691C>T (C17orf107) | NP_001139008.1:n.*1691C>T | |
| XM_011523612.1:c.546+1718C>T (C17orf107) | XP_011521914.1:n.546+1718C>T | |
| XM_011523631.1:c.337G>A (CHRNE) | XP_011521933.1:p.Glu113Lys | |
| NM_000080.4:c.337G>A (CHRNE) MANE Select | NP_000071.1:p.Glu113Lys | |
| XM_017024115.1:c.301G>A (CHRNE) | XP_016879604.1:p.Glu101Lys | |
| XR_001752421.1:n.1182G>A (CHRNE) | ||
| NM_001145536.2:c.*1691C>T (C17orf107) MANE Select | NP_001139008.1:n.*1691C>T |