Linked Data
ClinVar Variation Id:
1112365
ClinVar RCV Id:
RCV001439296
dbSNP Id:
rs751830305
MyVariant Identifiers:
chr17:g.4805259G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4901964G>C , CM000679.2:g.4901964G>C | GRCh38 |
| NC_000017.10:g.4805259G>C , CM000679.1:g.4805259G>C | GRCh37 |
| NC_000017.9:g.4746038G>C | NCBI36 |
| NG_008029.2:g.6112C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381365.4:c.*1431G>C (C17orf107) MANE Select | ENSP00000370770.3:n.*1431G>C | |
| ENST00000649488.2:c.468C>G (CHRNE) MANE Select | ENSP00000497829.1:p.Pro156= | |
| ENST00000649830.1:c.-466C>G (CHRNE) | ENSP00000496907.1:n.-466C>G | |
| ENST00000293780.4:c.468C>G (CHRNE) | ENSP00000293780.4:p.Pro156= | |
| ENST00000381365.3:c.*1431G>C (C17orf107) | ENSP00000370770.3:n.*1431G>C | |
| ENST00000575637.1:n.274+15C>G (CHRNE) | ||
| NM_000080.3:c.468C>G (CHRNE) | NP_000071.1:p.Pro156= | |
| NM_001145536.1:c.*1431G>C (C17orf107) | NP_001139008.1:n.*1431G>C | |
| XM_011523612.1:c.546+1458G>C (C17orf107) | XP_011521914.1:n.546+1458G>C | |
| XM_011523631.1:c.468C>G (CHRNE) | XP_011521933.1:p.Pro156= | |
| NM_000080.4:c.468C>G (CHRNE) MANE Select | NP_000071.1:p.Pro156= | |
| XM_017024115.1:c.432C>G (CHRNE) | XP_016879604.1:p.Pro144= | |
| XR_001752421.1:n.1313C>G (CHRNE) | ||
| NM_001145536.2:c.*1431G>C (C17orf107) MANE Select | NP_001139008.1:n.*1431G>C |