Canonical Allele Identifier: CA398532955
Gene: FLCN HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17219138C>T , CM000679.2:g.17219138C>T GRCh38
NC_000017.10:g.17122452C>T , CM000679.1:g.17122452C>T GRCh37
NC_000017.9:g.17063177C>T NCBI36
NG_008001.2:g.23051G>A , LRG_325:g.23051G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000285071.9:c.943G>A MANE Select ENSP00000285071.4:p.Glu315Lys
ENST00000285071.8:c.943G>A ENSP00000285071.4:p.Glu315Lys
ENST00000427497.3:c.149-84G>A ENSP00000394249.3:n.149-84G>A
NM_144997.5:c.943G>A , LRG_325t1:c.943G>A NP_659434.2:p.Glu315Lys
XM_011523714.1:c.997G>A XP_011522016.1:p.Glu333Lys
XM_011523715.1:c.997G>A XP_011522017.1:p.Glu333Lys
XM_011523716.1:c.997G>A XP_011522018.1:p.Glu333Lys
XM_011523717.1:c.997G>A XP_011522019.1:p.Glu333Lys
XM_011523718.1:c.997G>A XP_011522020.1:p.Glu333Lys
XM_011523719.1:c.997G>A XP_011522021.1:p.Glu333Lys
XM_011523720.1:c.721G>A XP_011522022.1:p.Glu241Lys
XM_011523721.1:c.997G>A XP_011522023.1:p.Glu333Lys
XR_934007.1:n.2337G>A
NM_001353229.1:c.997G>A NP_001340158.1:p.Glu333Lys
NM_001353230.1:c.943G>A NP_001340159.1:p.Glu315Lys
NM_001353231.1:c.943G>A NP_001340160.1:p.Glu315Lys
NM_144997.6:c.943G>A NP_659434.2:p.Glu315Lys
XM_011523714.3:c.997G>A XP_011522016.1:p.Glu333Lys
XM_011523718.3:c.997G>A XP_011522020.1:p.Glu333Lys
XM_011523719.3:c.997G>A XP_011522021.1:p.Glu333Lys
XM_011523721.3:c.997G>A XP_011522023.1:p.Glu333Lys
XM_017024305.2:c.997G>A XP_016879794.1:p.Glu333Lys
XM_017024308.1:c.943G>A XP_016879797.1:p.Glu315Lys
XM_017024309.2:c.721G>A XP_016879798.1:p.Glu241Lys
XM_024450635.1:c.997G>A XP_024306403.1:p.Glu333Lys
XR_001752445.2:n.1501G>A
NM_144997.7:c.943G>A MANE Select NP_659434.2:p.Glu315Lys
NM_001353229.2:c.997G>A NP_001340158.1:p.Glu333Lys
NM_001353230.2:c.943G>A NP_001340159.1:p.Glu315Lys
NM_001353231.2:c.943G>A NP_001340160.1:p.Glu315Lys