Linked Data
ClinVar Variation Id:
962329
ClinVar RCV Id:
RCV001236168
dbSNP Id:
rs1230039635
gnomAD v4:
17-4899475-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899475A>G , CM000679.2:g.4899475A>G | GRCh38 |
| NC_000017.10:g.4802770A>G , CM000679.1:g.4802770A>G | GRCh37 |
| NC_000017.9:g.4743549A>G | NCBI36 |
| NG_008029.2:g.8601T>C | |
| NG_028005.1:g.71136A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1025T>C (CHRNE) MANE Select | ENSP00000497829.1:p.Leu342Pro | |
| ENST00000649830.1:c.92T>C (CHRNE) | ENSP00000496907.1:p.Leu31Pro | |
| ENST00000652550.1:n.755T>C (CHRNE) | ||
| ENST00000293780.4:c.1025T>C (CHRNE) | ENSP00000293780.4:p.Leu342Pro | |
| ENST00000521575.1:c.-288A>G (C17orf107) | ENSP00000429241.1:n.-288A>G | |
| ENST00000572438.1:n.711T>C (CHRNE) | ||
| NM_000080.3:c.1025T>C (CHRNE) | NP_000071.1:p.Leu342Pro | |
| XM_011523612.1:c.-288A>G (C17orf107) | XP_011521914.1:n.-288A>G | |
| NM_000080.4:c.1025T>C (CHRNE) MANE Select | NP_000071.1:p.Leu342Pro | |
| XM_017024115.1:c.989T>C (CHRNE) | XP_016879604.1:p.Leu330Pro | |
| XR_001752421.1:n.1755T>C (CHRNE) |