Linked Data
ClinVar Variation Id:
1121143
ClinVar RCV Id:
RCV001451338
dbSNP Id:
rs532669011
ExAC:
17:4802826 G / T
gnomAD v2:
17-4802826-G-T
gnomAD v3:
17-4899531-G-T
gnomAD v4:
17-4899531-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899531G>T , CM000679.2:g.4899531G>T | GRCh38 |
| NC_000017.10:g.4802826G>T , CM000679.1:g.4802826G>T | GRCh37 |
| NC_000017.9:g.4743605G>T | NCBI36 |
| NG_008029.2:g.8545C>A | |
| NG_028005.1:g.71192G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.969C>A (CHRNE) MANE Select | ENSP00000497829.1:p.Val323= | |
| ENST00000649830.1:c.36C>A (CHRNE) | ENSP00000496907.1:p.Val12= | |
| ENST00000652550.1:n.699C>A (CHRNE) | ||
| ENST00000293780.4:c.969C>A (CHRNE) | ENSP00000293780.4:p.Val323= | |
| ENST00000521575.1:c.-232G>T (C17orf107) | ENSP00000429241.1:n.-232G>T | |
| ENST00000572438.1:n.655C>A (CHRNE) | ||
| NM_000080.3:c.969C>A (CHRNE) | NP_000071.1:p.Val323= | |
| XM_011523612.1:c.-232G>T (C17orf107) | XP_011521914.1:n.-232G>T | |
| XM_011523631.1:c.*8C>A (CHRNE) | XP_011521933.1:n.*8C>A | |
| NM_000080.4:c.969C>A (CHRNE) MANE Select | NP_000071.1:p.Val323= | |
| XM_017024115.1:c.933C>A (CHRNE) | XP_016879604.1:p.Val311= | |
| XR_001752421.1:n.1699C>A (CHRNE) |