Linked Data
ClinVar Variation Id:
322049
dbSNP Id:
rs184006653
gnomAD v2:
17-17116441-C-T
gnomAD v3:
17-17213127-C-T
gnomAD v4:
17-17213127-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17213127C>T , CM000679.2:g.17213127C>T | GRCh38 |
| NC_000017.10:g.17116441C>T , CM000679.1:g.17116441C>T | GRCh37 |
| NC_000017.9:g.17057166C>T | NCBI36 |
| NG_008001.2:g.29062G>A , LRG_325:g.29062G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285071.9:c.*528G>A (FLCN) MANE Select | ENSP00000285071.4:n.*528G>A | |
| ENST00000285071.8:c.*528G>A (FLCN) | ENSP00000285071.4:n.*528G>A | |
| ENST00000427497.3:c.*372+1858G>A | ENSP00000394249.3:n.*372+1858G>A | |
| ENST00000578209.5:c.562-4363C>T (MPRIP) | ||
| NM_144997.5:c.*528G>A , LRG_325t1:c.*528G>A (FLCN) | NP_659434.2:n.*528G>A | |
| XM_011523714.1:c.*528G>A (FLCN) | XP_011522016.1:n.*528G>A | |
| XM_011523715.1:c.*528G>A (FLCN) | XP_011522017.1:n.*528G>A | |
| XM_011523716.1:c.*528G>A (FLCN) | XP_011522018.1:n.*528G>A | |
| XM_011523717.1:c.*528G>A (FLCN) | XP_011522019.1:n.*528G>A | |
| XM_011523718.1:c.*528G>A (FLCN) | XP_011522020.1:n.*528G>A | |
| XM_011523719.1:c.1592+1858G>A (FLCN) | XP_011522021.1:n.1592+1858G>A | |
| XM_011523720.1:c.*528G>A (FLCN) | XP_011522022.1:n.*528G>A | |
| XM_011523721.1:c.*528G>A (FLCN) | XP_011522023.1:n.*528G>A | |
| NM_001353229.1:c.*528G>A (FLCN) | NP_001340158.1:n.*528G>A | |
| NM_001353230.1:c.*528G>A (FLCN) | NP_001340159.1:n.*528G>A | |
| NM_001353231.1:c.*528G>A (FLCN) | NP_001340160.1:n.*528G>A | |
| NM_144997.6:c.*528G>A (FLCN) | NP_659434.2:n.*528G>A | |
| XM_011523719.3:c.1592+1858G>A (FLCN) | XP_011522021.1:n.1592+1858G>A | |
| XM_017024309.2:c.*528G>A (FLCN) | XP_016879798.1:n.*528G>A | |
| NM_144997.7:c.*528G>A (FLCN) MANE Select | NP_659434.2:n.*528G>A | |
| NM_001353229.2:c.*528G>A (FLCN) | NP_001340158.1:n.*528G>A | |
| NM_001353230.2:c.*528G>A (FLCN) | NP_001340159.1:n.*528G>A | |
| NM_001353231.2:c.*528G>A (FLCN) | NP_001340160.1:n.*528G>A |