Canonical Allele Identifier: CA8416338
Gene: FLCN HGNC NCBI

Linked Data

ClinVar Variation Id: 415627
dbSNP Id: rs754710935

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17222593G>A , CM000679.2:g.17222593G>A GRCh38
NC_000017.10:g.17125907G>A , CM000679.1:g.17125907G>A GRCh37
NC_000017.9:g.17066632G>A NCBI36
NG_008001.2:g.19596C>T , LRG_325:g.19596C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000285071.9:c.687C>T MANE Select ENSP00000285071.4:p.Phe229=
ENST00000285071.8:c.687C>T ENSP00000285071.4:p.Phe229=
ENST00000389169.9:c.687C>T ENSP00000373821.5:p.Phe229=
ENST00000427497.3:c.149-3539C>T ENSP00000394249.3:p.=
ENST00000466317.1:n.530C>T
ENST00000480316.1:n.653C>T
NM_144606.5:c.687C>T NP_653207.1:p.Phe229=
NM_144997.5:c.687C>T , LRG_325t1:c.687C>T NP_659434.2:p.Phe229=
XM_011523714.1:c.741C>T XP_011522016.1:p.Phe247=
XM_011523715.1:c.741C>T XP_011522017.1:p.Phe247=
XM_011523716.1:c.741C>T XP_011522018.1:p.Phe247=
XM_011523717.1:c.741C>T XP_011522019.1:p.Phe247=
XM_011523718.1:c.741C>T XP_011522020.1:p.Phe247=
XM_011523719.1:c.741C>T XP_011522021.1:p.Phe247=
XM_011523720.1:c.465C>T XP_011522022.1:p.Phe155=
XM_011523721.1:c.741C>T XP_011522023.1:p.Phe247=
XR_934007.1:n.2081C>T
NM_001353229.1:c.741C>T NP_001340158.1:p.Phe247=
NM_001353230.1:c.687C>T NP_001340159.1:p.Phe229=
NM_001353231.1:c.687C>T NP_001340160.1:p.Phe229=
NM_144606.6:c.687C>T NP_653207.1:p.Phe229=
NM_144997.6:c.687C>T NP_659434.2:p.Phe229=
XM_011523714.3:c.741C>T XP_011522016.1:p.Phe247=
XM_011523718.3:c.741C>T XP_011522020.1:p.Phe247=
XM_011523719.3:c.741C>T XP_011522021.1:p.Phe247=
XM_011523721.3:c.741C>T XP_011522023.1:p.Phe247=
XM_017024305.2:c.741C>T XP_016879794.1:p.Phe247=
XM_017024308.1:c.687C>T XP_016879797.1:p.Phe229=
XM_017024309.2:c.465C>T XP_016879798.1:p.Phe155=
XM_024450635.1:c.741C>T XP_024306403.1:p.Phe247=
XR_001752445.2:n.1245C>T
NM_144997.7:c.687C>T MANE Select NP_659434.2:p.Phe229=
NM_001353229.2:c.741C>T NP_001340158.1:p.Phe247=
NM_001353230.2:c.687C>T NP_001340159.1:p.Phe229=
NM_001353231.2:c.687C>T NP_001340160.1:p.Phe229=
NM_144606.7:c.687C>T NP_653207.1:p.Phe229=