Canonical Allele Identifier: CA498165965

Gene: FLCN

Linked Data

• ClinVar Variation Id: 460623
• ClinVar RCV Id: RCV000534048 ; RCV001024961 ; RCV003979963
• dbSNP Id: rs1555610191
• gnomAD v4: 17-17223925-G-C
• MyVariant Identifiers: chr17:g.17127239G>C (hg19) ; chr17:g.17223925G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17223925G>C , CM000679.2:g.17223925G>C	GRCh38
NC_000017.10:g.17127239G>C , CM000679.1:g.17127239G>C	GRCh37
NC_000017.9:g.17067964G>C	NCBI36
NG_008001.2:g.18264C>G , LRG_325:g.18264C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000285071.9:c.615C>G MANE Select	ENSP00000285071.4:p.Leu205=
ENST00000285071.8:c.615C>G	ENSP00000285071.4:p.Leu205=
ENST00000389169.9:c.615C>G	ENSP00000373821.5:p.Leu205=
ENST00000417064.1:c.456C>G	ENSP00000410410.1:p.Leu152=
ENST00000427497.3:c.148+4065C>G	ENSP00000394249.3:n.148+4065C>G
ENST00000480316.1:n.581C>G
NM_144606.5:c.615C>G	NP_653207.1:p.Leu205=
NM_144997.5:c.615C>G , LRG_325t1:c.615C>G	NP_659434.2:p.Leu205=
XM_011523714.1:c.669C>G	XP_011522016.1:p.Leu223=
XM_011523715.1:c.669C>G	XP_011522017.1:p.Leu223=
XM_011523716.1:c.669C>G	XP_011522018.1:p.Leu223=
XM_011523717.1:c.669C>G	XP_011522019.1:p.Leu223=
XM_011523718.1:c.669C>G	XP_011522020.1:p.Leu223=
XM_011523719.1:c.669C>G	XP_011522021.1:p.Leu223=
XM_011523720.1:c.397-1264C>G	XP_011522022.1:n.397-1264C>G
XM_011523721.1:c.669C>G	XP_011522023.1:p.Leu223=
XR_934007.1:n.2009C>G
NM_001353229.1:c.669C>G	NP_001340158.1:p.Leu223=
NM_001353230.1:c.615C>G	NP_001340159.1:p.Leu205=
NM_001353231.1:c.615C>G	NP_001340160.1:p.Leu205=
NM_144606.6:c.615C>G	NP_653207.1:p.Leu205=
NM_144997.6:c.615C>G	NP_659434.2:p.Leu205=
XM_011523714.3:c.669C>G	XP_011522016.1:p.Leu223=
XM_011523718.3:c.669C>G	XP_011522020.1:p.Leu223=
XM_011523719.3:c.669C>G	XP_011522021.1:p.Leu223=
XM_011523721.3:c.669C>G	XP_011522023.1:p.Leu223=
XM_017024305.2:c.669C>G	XP_016879794.1:p.Leu223=
XM_017024308.1:c.615C>G	XP_016879797.1:p.Leu205=
XM_017024309.2:c.397-1264C>G	XP_016879798.1:n.397-1264C>G
XM_024450635.1:c.669C>G	XP_024306403.1:p.Leu223=
XR_001752445.2:n.1173C>G
NM_144997.7:c.615C>G MANE Select	NP_659434.2:p.Leu205=
NM_001353229.2:c.669C>G	NP_001340158.1:p.Leu223=
NM_001353230.2:c.615C>G	NP_001340159.1:p.Leu205=
NM_001353231.2:c.615C>G	NP_001340160.1:p.Leu205=
NM_144606.7:c.615C>G	NP_653207.1:p.Leu205=