Canonical Allele Identifier: CA2580092636

Gene: FLCN

Linked Data

• ClinVar Variation Id: 1752057
• ClinVar RCV Id: RCV002353764

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17223924dup , CM000679.2:g.17223924dup	GRCh38
NC_000017.10:g.17127238dup , CM000679.1:g.17127238dup	GRCh37
NC_000017.9:g.17067963dup	NCBI36
NG_008001.2:g.18266dup , LRG_325:g.18266dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000285071.9:c.617dup MANE Select	ENSP00000285071.4:p.Val207GlyfsTer3
ENST00000285071.8:c.617dup	ENSP00000285071.4:p.Val207GlyfsTer3
ENST00000389169.9:c.617dup	ENSP00000373821.5:p.Val207GlyfsTer3
ENST00000417064.1:c.458dup	ENSP00000410410.1:p.Lys153=
ENST00000427497.3:c.148+4067dup	ENSP00000394249.3:n.148+4067dup
ENST00000480316.1:n.583dup
NM_144606.5:c.617dup	NP_653207.1:p.Val207GlyfsTer3
NM_144997.5:c.617dup , LRG_325t1:c.617dup	NP_659434.2:p.Val207GlyfsTer3
XM_011523714.1:c.671dup	XP_011522016.1:p.Val225GlyfsTer3
XM_011523715.1:c.671dup	XP_011522017.1:p.Val225GlyfsTer3
XM_011523716.1:c.671dup	XP_011522018.1:p.Val225GlyfsTer3
XM_011523717.1:c.671dup	XP_011522019.1:p.Val225GlyfsTer3
XM_011523718.1:c.671dup	XP_011522020.1:p.Val225GlyfsTer3
XM_011523719.1:c.671dup	XP_011522021.1:p.Val225GlyfsTer3
XM_011523720.1:c.397-1262dup	XP_011522022.1:n.397-1262dup
XM_011523721.1:c.671dup	XP_011522023.1:p.Val225GlyfsTer3
XR_934007.1:n.2011dup
NM_001353229.1:c.671dup	NP_001340158.1:p.Val225GlyfsTer3
NM_001353230.1:c.617dup	NP_001340159.1:p.Val207GlyfsTer3
NM_001353231.1:c.617dup	NP_001340160.1:p.Val207GlyfsTer3
NM_144606.6:c.617dup	NP_653207.1:p.Val207GlyfsTer3
NM_144997.6:c.617dup	NP_659434.2:p.Val207GlyfsTer3
XM_011523714.3:c.671dup	XP_011522016.1:p.Val225GlyfsTer3
XM_011523718.3:c.671dup	XP_011522020.1:p.Val225GlyfsTer3
XM_011523719.3:c.671dup	XP_011522021.1:p.Val225GlyfsTer3
XM_011523721.3:c.671dup	XP_011522023.1:p.Val225GlyfsTer3
XM_017024305.2:c.671dup	XP_016879794.1:p.Val225GlyfsTer3
XM_017024308.1:c.617dup	XP_016879797.1:p.Val207GlyfsTer3
XM_017024309.2:c.397-1262dup	XP_016879798.1:n.397-1262dup
XM_024450635.1:c.671dup	XP_024306403.1:p.Val225GlyfsTer3
XR_001752445.2:n.1175dup
NM_144997.7:c.617dup MANE Select	NP_659434.2:p.Val207GlyfsTer3
NM_001353229.2:c.671dup	NP_001340158.1:p.Val225GlyfsTer3
NM_001353230.2:c.617dup	NP_001340159.1:p.Val207GlyfsTer3
NM_001353231.2:c.617dup	NP_001340160.1:p.Val207GlyfsTer3
NM_144606.7:c.617dup	NP_653207.1:p.Val207GlyfsTer3