Linked Data
ClinVar Variation Id:
534260
ClinVar RCV Id:
RCV000641748
dbSNP Id:
rs121909515
ExAC:
17:4802804 G / T
gnomAD v2:
17-4802804-G-T
gnomAD v3:
17-4899509-G-T
gnomAD v4:
17-4899509-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899509G>T , CM000679.2:g.4899509G>T | GRCh38 |
| NC_000017.10:g.4802804G>T , CM000679.1:g.4802804G>T | GRCh37 |
| NC_000017.9:g.4743583G>T | NCBI36 |
| NG_008029.2:g.8567C>A | |
| NG_028005.1:g.71170G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649488.2:c.991C>A (CHRNE) MANE Select | ENSP00000497829.1:p.Arg331= | |
| ENST00000649830.1:c.58C>A (CHRNE) | ENSP00000496907.1:p.Arg20= | |
| ENST00000652550.1:n.721C>A (CHRNE) | ||
| ENST00000293780.4:c.991C>A (CHRNE) | ENSP00000293780.4:p.Arg331= | |
| ENST00000521575.1:c.-254G>T (C17orf107) | ENSP00000429241.1:n.-254G>T | |
| ENST00000572438.1:n.677C>A (CHRNE) | ||
| NM_000080.3:c.991C>A (CHRNE) | NP_000071.1:p.Arg331= | |
| XM_011523612.1:c.-254G>T (C17orf107) | XP_011521914.1:n.-254G>T | |
| XM_011523631.1:c.*30C>A (CHRNE) | XP_011521933.1:n.*30C>A | |
| NM_000080.4:c.991C>A (CHRNE) MANE Select | NP_000071.1:p.Arg331= | |
| XM_017024115.1:c.955C>A (CHRNE) | XP_016879604.1:p.Arg319= | |
| XR_001752421.1:n.1721C>A (CHRNE) |