Canonical Allele Identifier: CA398532966

Gene: FLCN

Linked Data

• ClinVar Variation Id: 857899
• ClinVar RCV Id: RCV001063666
• dbSNP Id: rs1432138522
• MyVariant Identifiers: chr17:g.17122458A>C (hg19) ; chr17:g.17219144A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17219144A>C , CM000679.2:g.17219144A>C	GRCh38
NC_000017.10:g.17122458A>C , CM000679.1:g.17122458A>C	GRCh37
NC_000017.9:g.17063183A>C	NCBI36
NG_008001.2:g.23045T>G , LRG_325:g.23045T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.937T>G MANE Select	ENSP00000285071.4:p.Leu313Val
ENST00000285071.8:c.937T>G	ENSP00000285071.4:p.Leu313Val
ENST00000427497.3:c.149-90T>G	ENSP00000394249.3:n.149-90T>G
NM_144997.5:c.937T>G , LRG_325t1:c.937T>G	NP_659434.2:p.Leu313Val
XM_011523714.1:c.991T>G	XP_011522016.1:p.Leu331Val
XM_011523715.1:c.991T>G	XP_011522017.1:p.Leu331Val
XM_011523716.1:c.991T>G	XP_011522018.1:p.Leu331Val
XM_011523717.1:c.991T>G	XP_011522019.1:p.Leu331Val
XM_011523718.1:c.991T>G	XP_011522020.1:p.Leu331Val
XM_011523719.1:c.991T>G	XP_011522021.1:p.Leu331Val
XM_011523720.1:c.715T>G	XP_011522022.1:p.Leu239Val
XM_011523721.1:c.991T>G	XP_011522023.1:p.Leu331Val
XR_934007.1:n.2331T>G
NM_001353229.1:c.991T>G	NP_001340158.1:p.Leu331Val
NM_001353230.1:c.937T>G	NP_001340159.1:p.Leu313Val
NM_001353231.1:c.937T>G	NP_001340160.1:p.Leu313Val
NM_144997.6:c.937T>G	NP_659434.2:p.Leu313Val
XM_011523714.3:c.991T>G	XP_011522016.1:p.Leu331Val
XM_011523718.3:c.991T>G	XP_011522020.1:p.Leu331Val
XM_011523719.3:c.991T>G	XP_011522021.1:p.Leu331Val
XM_011523721.3:c.991T>G	XP_011522023.1:p.Leu331Val
XM_017024305.2:c.991T>G	XP_016879794.1:p.Leu331Val
XM_017024308.1:c.937T>G	XP_016879797.1:p.Leu313Val
XM_017024309.2:c.715T>G	XP_016879798.1:p.Leu239Val
XM_024450635.1:c.991T>G	XP_024306403.1:p.Leu331Val
XR_001752445.2:n.1495T>G
NM_144997.7:c.937T>G MANE Select	NP_659434.2:p.Leu313Val
NM_001353229.2:c.991T>G	NP_001340158.1:p.Leu331Val
NM_001353230.2:c.937T>G	NP_001340159.1:p.Leu313Val
NM_001353231.2:c.937T>G	NP_001340160.1:p.Leu313Val