Linked Data
ClinVar Variation Id:
18346
dbSNP Id:
rs121909512
ExAC:
17:4805305 G / A
gnomAD v2:
17-4805305-G-A
gnomAD v3:
17-4902010-G-A
gnomAD v4:
17-4902010-G-A
COSMIC:
COSM3370784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4902010G>A , CM000679.2:g.4902010G>A | GRCh38 |
| NC_000017.10:g.4805305G>A , CM000679.1:g.4805305G>A | GRCh37 |
| NC_000017.9:g.4746084G>A | NCBI36 |
| NG_008029.2:g.6066C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381365.4:c.*1477G>A (C17orf107) MANE Select | ENSP00000370770.3:n.*1477G>A | |
| ENST00000649488.2:c.422C>T (CHRNE) MANE Select | ENSP00000497829.1:p.Pro141Leu | |
| ENST00000649830.1:c.-512C>T (CHRNE) | ENSP00000496907.1:n.-512C>T | |
| ENST00000293780.4:c.422C>T (CHRNE) | ENSP00000293780.4:p.Pro141Leu | |
| ENST00000381365.3:c.*1477G>A (C17orf107) | ENSP00000370770.3:n.*1477G>A | |
| ENST00000575637.1:n.243C>T (CHRNE) | ||
| NM_000080.3:c.422C>T (CHRNE) | NP_000071.1:p.Pro141Leu | |
| NM_001145536.1:c.*1477G>A (C17orf107) | NP_001139008.1:n.*1477G>A | |
| XM_011523612.1:c.546+1504G>A (C17orf107) | XP_011521914.1:n.546+1504G>A | |
| XM_011523631.1:c.422C>T (CHRNE) | XP_011521933.1:p.Pro141Leu | |
| NM_000080.4:c.422C>T (CHRNE) MANE Select | NP_000071.1:p.Pro141Leu | |
| XM_017024115.1:c.386C>T (CHRNE) | XP_016879604.1:p.Pro129Leu | |
| XR_001752421.1:n.1267C>T (CHRNE) | ||
| NM_001145536.2:c.*1477G>A (C17orf107) MANE Select | NP_001139008.1:n.*1477G>A |