Canonical Allele Identifier: CA159770
Gene: FLCN HGNC NCBI

Linked Data

ClinVar Variation Id: 134425
dbSNP Id: rs587778367

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17224038G>A , CM000679.2:g.17224038G>A GRCh38
NC_000017.10:g.17127352G>A , CM000679.1:g.17127352G>A GRCh37
NC_000017.9:g.17068077G>A NCBI36
NG_008001.2:g.18151C>T , LRG_325:g.18151C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000285071.9:c.502C>T MANE Select ENSP00000285071.4:p.Arg168Cys
ENST00000285071.8:c.502C>T ENSP00000285071.4:p.Arg168Cys
ENST00000389169.9:c.502C>T ENSP00000373821.5:p.Arg168Cys
ENST00000417064.1:c.343C>T ENSP00000410410.1:p.Arg115Cys
ENST00000427497.3:c.148+3952C>T ENSP00000394249.3:p.=
ENST00000480316.1:n.468C>T
NM_144606.5:c.502C>T NP_653207.1:p.Arg168Cys
NM_144997.5:c.502C>T , LRG_325t1:c.502C>T NP_659434.2:p.Arg168Cys
XM_011523714.1:c.556C>T XP_011522016.1:p.Arg186Cys
XM_011523715.1:c.556C>T XP_011522017.1:p.Arg186Cys
XM_011523716.1:c.556C>T XP_011522018.1:p.Arg186Cys
XM_011523717.1:c.556C>T XP_011522019.1:p.Arg186Cys
XM_011523718.1:c.556C>T XP_011522020.1:p.Arg186Cys
XM_011523719.1:c.556C>T XP_011522021.1:p.Arg186Cys
XM_011523720.1:c.397-1377C>T XP_011522022.1:p.=
XM_011523721.1:c.556C>T XP_011522023.1:p.Arg186Cys
XR_934007.1:n.1896C>T
NM_001353229.1:c.556C>T NP_001340158.1:p.Arg186Cys
NM_001353230.1:c.502C>T NP_001340159.1:p.Arg168Cys
NM_001353231.1:c.502C>T NP_001340160.1:p.Arg168Cys
NM_144606.6:c.502C>T NP_653207.1:p.Arg168Cys
NM_144997.6:c.502C>T NP_659434.2:p.Arg168Cys
XM_011523714.3:c.556C>T XP_011522016.1:p.Arg186Cys
XM_011523718.3:c.556C>T XP_011522020.1:p.Arg186Cys
XM_011523719.3:c.556C>T XP_011522021.1:p.Arg186Cys
XM_011523721.3:c.556C>T XP_011522023.1:p.Arg186Cys
XM_017024305.2:c.556C>T XP_016879794.1:p.Arg186Cys
XM_017024308.1:c.502C>T XP_016879797.1:p.Arg168Cys
XM_017024309.2:c.397-1377C>T XP_016879798.1:p.=
XM_024450635.1:c.556C>T XP_024306403.1:p.Arg186Cys
XR_001752445.2:n.1060C>T
NM_144997.7:c.502C>T MANE Select NP_659434.2:p.Arg168Cys
NM_001353229.2:c.556C>T NP_001340158.1:p.Arg186Cys
NM_001353230.2:c.502C>T NP_001340159.1:p.Arg168Cys
NM_001353231.2:c.502C>T NP_001340160.1:p.Arg168Cys
NM_144606.7:c.502C>T NP_653207.1:p.Arg168Cys