Linked Data
ClinVar Variation Id:
2440066
ClinVar RCV Id:
RCV003144966
dbSNP Id:
rs139922367
ExAC:
17:4802776 G / T
gnomAD v2:
17-4802776-G-T
gnomAD v3:
17-4899481-G-T
gnomAD v4:
17-4899481-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899481G>T , CM000679.2:g.4899481G>T | GRCh38 |
| NC_000017.10:g.4802776G>T , CM000679.1:g.4802776G>T | GRCh37 |
| NC_000017.9:g.4743555G>T | NCBI36 |
| NG_008029.2:g.8595C>A | |
| NG_028005.1:g.71142G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1019C>A (CHRNE) MANE Select | ENSP00000497829.1:p.Pro340Gln | |
| ENST00000649830.1:c.86C>A (CHRNE) | ENSP00000496907.1:p.Pro29Gln | |
| ENST00000652550.1:n.749C>A (CHRNE) | ||
| ENST00000293780.4:c.1019C>A (CHRNE) | ENSP00000293780.4:p.Pro340Gln | |
| ENST00000521575.1:c.-282G>T (C17orf107) | ENSP00000429241.1:n.-282G>T | |
| ENST00000572438.1:n.705C>A (CHRNE) | ||
| NM_000080.3:c.1019C>A (CHRNE) | NP_000071.1:p.Pro340Gln | |
| XM_011523612.1:c.-282G>T (C17orf107) | XP_011521914.1:n.-282G>T | |
| NM_000080.4:c.1019C>A (CHRNE) MANE Select | NP_000071.1:p.Pro340Gln | |
| XM_017024115.1:c.983C>A (CHRNE) | XP_016879604.1:p.Pro328Gln | |
| XR_001752421.1:n.1749C>A (CHRNE) |