Linked Data
ClinVar Variation Id:
1495679
dbSNP Id:
rs772495418
ExAC:
17:4805545 A / G
gnomAD v2:
17-4805545-A-G
gnomAD v3:
17-4902250-A-G
gnomAD v4:
17-4902250-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4902250A>G , CM000679.2:g.4902250A>G | GRCh38 |
| NC_000017.10:g.4805545A>G , CM000679.1:g.4805545A>G | GRCh37 |
| NC_000017.9:g.4746324A>G | NCBI36 |
| NG_008029.2:g.5826T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381365.4:c.*1717A>G (C17orf107) MANE Select | ENSP00000370770.3:n.*1717A>G | |
| ENST00000649488.2:c.311T>C (CHRNE) MANE Select | ENSP00000497829.1:p.Leu104Pro | |
| ENST00000649830.1:c.-623T>C (CHRNE) | ENSP00000496907.1:n.-623T>C | |
| ENST00000293780.4:c.311T>C (CHRNE) | ENSP00000293780.4:p.Leu104Pro | |
| ENST00000381365.3:c.*1717A>G (C17orf107) | ENSP00000370770.3:n.*1717A>G | |
| ENST00000575637.1:n.132T>C (CHRNE) | ||
| NM_000080.3:c.311T>C (CHRNE) | NP_000071.1:p.Leu104Pro | |
| NM_001145536.1:c.*1717A>G (C17orf107) | NP_001139008.1:n.*1717A>G | |
| XM_011523612.1:c.546+1744A>G (C17orf107) | XP_011521914.1:n.546+1744A>G | |
| XM_011523631.1:c.311T>C (CHRNE) | XP_011521933.1:p.Leu104Pro | |
| NM_000080.4:c.311T>C (CHRNE) MANE Select | NP_000071.1:p.Leu104Pro | |
| XM_017024115.1:c.275T>C (CHRNE) | XP_016879604.1:p.Leu92Pro | |
| XR_001752421.1:n.1156T>C (CHRNE) | ||
| NM_001145536.2:c.*1717A>G (C17orf107) MANE Select | NP_001139008.1:n.*1717A>G |