Linked Data
ClinVar Variation Id:
40201
ClinVar RCV Id:
RCV000033219
dbSNP Id:
rs193919341
gnomAD v4:
17-4902461-A-G
PubMed:
PMID:22592360
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4902461A>G , CM000679.2:g.4902461A>G | GRCh38 |
| NC_000017.10:g.4805756A>G , CM000679.1:g.4805756A>G | GRCh37 |
| NC_000017.9:g.4746535A>G | NCBI36 |
| NG_008029.2:g.5615T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381365.4:c.*1928A>G (C17orf107) MANE Select | ENSP00000370770.3:n.*1928A>G | |
| ENST00000649488.2:c.223T>C (CHRNE) MANE Select | ENSP00000497829.1:p.Trp75Arg | |
| ENST00000649830.1:c.-711T>C (CHRNE) | ENSP00000496907.1:n.-711T>C | |
| ENST00000293780.4:c.223T>C (CHRNE) | ENSP00000293780.4:p.Trp75Arg | |
| ENST00000381365.3:c.*1928A>G (C17orf107) | ENSP00000370770.3:n.*1928A>G | |
| ENST00000575637.1:n.44T>C (CHRNE) | ||
| NM_000080.3:c.223T>C (CHRNE) | NP_000071.1:p.Trp75Arg | |
| NM_001145536.1:c.*1928A>G (C17orf107) | NP_001139008.1:n.*1928A>G | |
| XM_011523612.1:c.546+1955A>G (C17orf107) | XP_011521914.1:n.546+1955A>G | |
| XM_011523631.1:c.223T>C (CHRNE) | XP_011521933.1:p.Trp75Arg | |
| NM_000080.4:c.223T>C (CHRNE) MANE Select | NP_000071.1:p.Trp75Arg | |
| XM_017024115.1:c.187T>C (CHRNE) | XP_016879604.1:p.Trp63Arg | |
| XR_001752421.1:n.1068T>C (CHRNE) | ||
| NM_001145536.2:c.*1928A>G (C17orf107) MANE Select | NP_001139008.1:n.*1928A>G |