Linked Data
ClinVar Variation Id:
1112172
ClinVar RCV Id:
RCV001439031
dbSNP Id:
rs1172630871
gnomAD v2:
17-4802766-G-A
gnomAD v3:
17-4899471-G-A
gnomAD v4:
17-4899471-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899471G>A , CM000679.2:g.4899471G>A | GRCh38 |
| NC_000017.10:g.4802766G>A , CM000679.1:g.4802766G>A | GRCh37 |
| NC_000017.9:g.4743545G>A | NCBI36 |
| NG_008029.2:g.8605C>T | |
| NG_028005.1:g.71132G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1029C>T (CHRNE) MANE Select | ENSP00000497829.1:p.Arg343= | |
| ENST00000649830.1:c.96C>T (CHRNE) | ENSP00000496907.1:p.Arg32= | |
| ENST00000652550.1:n.759C>T (CHRNE) | ||
| ENST00000293780.4:c.1029C>T (CHRNE) | ENSP00000293780.4:p.Arg343= | |
| ENST00000521575.1:c.-292G>A (C17orf107) | ENSP00000429241.1:n.-292G>A | |
| ENST00000572438.1:n.715C>T (CHRNE) | ||
| NM_000080.3:c.1029C>T (CHRNE) | NP_000071.1:p.Arg343= | |
| XM_011523612.1:c.-292G>A (C17orf107) | XP_011521914.1:n.-292G>A | |
| NM_000080.4:c.1029C>T (CHRNE) MANE Select | NP_000071.1:p.Arg343= | |
| XM_017024115.1:c.993C>T (CHRNE) | XP_016879604.1:p.Arg331= | |
| XR_001752421.1:n.1759C>T (CHRNE) |