Canonical Allele Identifier: CA398532961

Gene: FLCN

Linked Data

• ClinVar Variation Id: 529997
• ClinVar RCV Id: RCV000635558 ; RCV002377376
• dbSNP Id: rs558365108
• gnomAD v4: 17-17219142-C-A
• MyVariant Identifiers: chr17:g.17122456C>A (hg19) ; chr17:g.17219142C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17219142C>A , CM000679.2:g.17219142C>A	GRCh38
NC_000017.10:g.17122456C>A , CM000679.1:g.17122456C>A	GRCh37
NC_000017.9:g.17063181C>A	NCBI36
NG_008001.2:g.23047G>T , LRG_325:g.23047G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.939G>T MANE Select	ENSP00000285071.4:p.Leu313Phe
ENST00000285071.8:c.939G>T	ENSP00000285071.4:p.Leu313Phe
ENST00000427497.3:c.149-88G>T	ENSP00000394249.3:n.149-88G>T
NM_144997.5:c.939G>T , LRG_325t1:c.939G>T	NP_659434.2:p.Leu313Phe
XM_011523714.1:c.993G>T	XP_011522016.1:p.Leu331Phe
XM_011523715.1:c.993G>T	XP_011522017.1:p.Leu331Phe
XM_011523716.1:c.993G>T	XP_011522018.1:p.Leu331Phe
XM_011523717.1:c.993G>T	XP_011522019.1:p.Leu331Phe
XM_011523718.1:c.993G>T	XP_011522020.1:p.Leu331Phe
XM_011523719.1:c.993G>T	XP_011522021.1:p.Leu331Phe
XM_011523720.1:c.717G>T	XP_011522022.1:p.Leu239Phe
XM_011523721.1:c.993G>T	XP_011522023.1:p.Leu331Phe
XR_934007.1:n.2333G>T
NM_001353229.1:c.993G>T	NP_001340158.1:p.Leu331Phe
NM_001353230.1:c.939G>T	NP_001340159.1:p.Leu313Phe
NM_001353231.1:c.939G>T	NP_001340160.1:p.Leu313Phe
NM_144997.6:c.939G>T	NP_659434.2:p.Leu313Phe
XM_011523714.3:c.993G>T	XP_011522016.1:p.Leu331Phe
XM_011523718.3:c.993G>T	XP_011522020.1:p.Leu331Phe
XM_011523719.3:c.993G>T	XP_011522021.1:p.Leu331Phe
XM_011523721.3:c.993G>T	XP_011522023.1:p.Leu331Phe
XM_017024305.2:c.993G>T	XP_016879794.1:p.Leu331Phe
XM_017024308.1:c.939G>T	XP_016879797.1:p.Leu313Phe
XM_017024309.2:c.717G>T	XP_016879798.1:p.Leu239Phe
XM_024450635.1:c.993G>T	XP_024306403.1:p.Leu331Phe
XR_001752445.2:n.1497G>T
NM_144997.7:c.939G>T MANE Select	NP_659434.2:p.Leu313Phe
NM_001353229.2:c.993G>T	NP_001340158.1:p.Leu331Phe
NM_001353230.2:c.939G>T	NP_001340159.1:p.Leu313Phe
NM_001353231.2:c.939G>T	NP_001340160.1:p.Leu313Phe