Linked Data
ClinVar Variation Id:
2851064
ClinVar RCV Id:
RCV003640434
gnomAD v4:
17-4899480-C-T
MyVariant Identifiers:
chr17:g.4802775C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899480C>T , CM000679.2:g.4899480C>T | GRCh38 |
| NC_000017.10:g.4802775C>T , CM000679.1:g.4802775C>T | GRCh37 |
| NC_000017.9:g.4743554C>T | NCBI36 |
| NG_008029.2:g.8596G>A | |
| NG_028005.1:g.71141C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1020G>A (CHRNE) MANE Select | ENSP00000497829.1:p.Pro340= | |
| ENST00000649830.1:c.87G>A (CHRNE) | ENSP00000496907.1:p.Pro29= | |
| ENST00000652550.1:n.750G>A (CHRNE) | ||
| ENST00000293780.4:c.1020G>A (CHRNE) | ENSP00000293780.4:p.Pro340= | |
| ENST00000521575.1:c.-283C>T (C17orf107) | ENSP00000429241.1:n.-283C>T | |
| ENST00000572438.1:n.706G>A (CHRNE) | ||
| NM_000080.3:c.1020G>A (CHRNE) | NP_000071.1:p.Pro340= | |
| XM_011523612.1:c.-283C>T (C17orf107) | XP_011521914.1:n.-283C>T | |
| NM_000080.4:c.1020G>A (CHRNE) MANE Select | NP_000071.1:p.Pro340= | |
| XM_017024115.1:c.984G>A (CHRNE) | XP_016879604.1:p.Pro328= | |
| XR_001752421.1:n.1750G>A (CHRNE) |