Linked Data
ClinVar Variation Id:
18345
dbSNP Id:
rs121909514
gnomAD v3:
17-4901932-C-A
gnomAD v4:
17-4901932-C-A
COSMIC:
COSM3672494
PubMed:
PMID:9158150
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4901932C>A , CM000679.2:g.4901932C>A | GRCh38 |
| NC_000017.10:g.4805227C>A , CM000679.1:g.4805227C>A | GRCh37 |
| NC_000017.9:g.4746006C>A | NCBI36 |
| NG_008029.2:g.6144G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381365.4:c.*1399C>A (C17orf107) MANE Select | ENSP00000370770.3:n.*1399C>A | |
| ENST00000649488.2:c.500G>T (CHRNE) MANE Select | ENSP00000497829.1:p.Arg167Leu | |
| ENST00000649830.1:c.-434G>T (CHRNE) | ENSP00000496907.1:n.-434G>T | |
| ENST00000293780.4:c.500G>T (CHRNE) | ENSP00000293780.4:p.Arg167Leu | |
| ENST00000381365.3:c.*1399C>A (C17orf107) | ENSP00000370770.3:n.*1399C>A | |
| ENST00000575637.1:n.274+47G>T (CHRNE) | ||
| NM_000080.3:c.500G>T (CHRNE) | NP_000071.1:p.Arg167Leu | |
| NM_001145536.1:c.*1399C>A (C17orf107) | NP_001139008.1:n.*1399C>A | |
| XM_011523612.1:c.546+1426C>A (C17orf107) | XP_011521914.1:n.546+1426C>A | |
| XM_011523631.1:c.500G>T (CHRNE) | XP_011521933.1:p.Arg167Leu | |
| NM_000080.4:c.500G>T (CHRNE) MANE Select | NP_000071.1:p.Arg167Leu | |
| XM_017024115.1:c.464G>T (CHRNE) | XP_016879604.1:p.Arg155Leu | |
| XR_001752421.1:n.1345G>T (CHRNE) | ||
| NM_001145536.2:c.*1399C>A (C17orf107) MANE Select | NP_001139008.1:n.*1399C>A |