Linked Data
ClinVar Variation Id:
2039318
dbSNP Id:
rs142901746
ExAC:
17:4805272 A / T
gnomAD v2:
17-4805272-A-T
gnomAD v3:
17-4901977-A-T
gnomAD v4:
17-4901977-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4901977A>T , CM000679.2:g.4901977A>T | GRCh38 |
| NC_000017.10:g.4805272A>T , CM000679.1:g.4805272A>T | GRCh37 |
| NC_000017.9:g.4746051A>T | NCBI36 |
| NG_008029.2:g.6099T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381365.4:c.*1444A>T (C17orf107) MANE Select | ENSP00000370770.3:n.*1444A>T | |
| ENST00000649488.2:c.455T>A (CHRNE) MANE Select | ENSP00000497829.1:p.Val152Asp | |
| ENST00000649830.1:c.-479T>A (CHRNE) | ENSP00000496907.1:n.-479T>A | |
| ENST00000293780.4:c.455T>A (CHRNE) | ENSP00000293780.4:p.Val152Asp | |
| ENST00000381365.3:c.*1444A>T (C17orf107) | ENSP00000370770.3:n.*1444A>T | |
| ENST00000575637.1:n.274+2T>A (CHRNE) | ||
| NM_000080.3:c.455T>A (CHRNE) | NP_000071.1:p.Val152Asp | |
| NM_001145536.1:c.*1444A>T (C17orf107) | NP_001139008.1:n.*1444A>T | |
| XM_011523612.1:c.546+1471A>T (C17orf107) | XP_011521914.1:n.546+1471A>T | |
| XM_011523631.1:c.455T>A (CHRNE) | XP_011521933.1:p.Val152Asp | |
| NM_000080.4:c.455T>A (CHRNE) MANE Select | NP_000071.1:p.Val152Asp | |
| XM_017024115.1:c.419T>A (CHRNE) | XP_016879604.1:p.Val140Asp | |
| XR_001752421.1:n.1300T>A (CHRNE) | ||
| NM_001145536.2:c.*1444A>T (C17orf107) MANE Select | NP_001139008.1:n.*1444A>T |