Canonical Allele Identifier: CA8416182

Gene: FLCN

Linked Data

• ClinVar Variation Id: 322065
• ClinVar RCV Id: RCV000264762 ; RCV000319945 ; RCV000567800 ; RCV000589923
• dbSNP Id: rs138031155
• ExAC: 17:17122418 G / A
• gnomAD v2: 17-17122418-G-A
• gnomAD v3: 17-17219104-G-A
• gnomAD v4: 17-17219104-G-A
• MyVariant Identifiers: chr17:g.17122418G>A (hg19) ; chr17:g.17219104G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17219104G>A , CM000679.2:g.17219104G>A	GRCh38
NC_000017.10:g.17122418G>A , CM000679.1:g.17122418G>A	GRCh37
NC_000017.9:g.17063143G>A	NCBI36
NG_008001.2:g.23085C>T , LRG_325:g.23085C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.977C>T MANE Select	ENSP00000285071.4:p.Pro326Leu
ENST00000285071.8:c.977C>T	ENSP00000285071.4:p.Pro326Leu
ENST00000427497.3:c.149-50C>T	ENSP00000394249.3:n.149-50C>T
NM_144997.5:c.977C>T , LRG_325t1:c.977C>T	NP_659434.2:p.Pro326Leu
XM_011523714.1:c.1031C>T	XP_011522016.1:p.Pro344Leu
XM_011523715.1:c.1031C>T	XP_011522017.1:p.Pro344Leu
XM_011523716.1:c.1031C>T	XP_011522018.1:p.Pro344Leu
XM_011523717.1:c.1031C>T	XP_011522019.1:p.Pro344Leu
XM_011523718.1:c.1031C>T	XP_011522020.1:p.Pro344Leu
XM_011523719.1:c.1031C>T	XP_011522021.1:p.Pro344Leu
XM_011523720.1:c.755C>T	XP_011522022.1:p.Pro252Leu
XM_011523721.1:c.1031C>T	XP_011522023.1:p.Pro344Leu
XR_934007.1:n.2371C>T
NM_001353229.1:c.1031C>T	NP_001340158.1:p.Pro344Leu
NM_001353230.1:c.977C>T	NP_001340159.1:p.Pro326Leu
NM_001353231.1:c.977C>T	NP_001340160.1:p.Pro326Leu
NM_144997.6:c.977C>T	NP_659434.2:p.Pro326Leu
XM_011523714.3:c.1031C>T	XP_011522016.1:p.Pro344Leu
XM_011523718.3:c.1031C>T	XP_011522020.1:p.Pro344Leu
XM_011523719.3:c.1031C>T	XP_011522021.1:p.Pro344Leu
XM_011523721.3:c.1031C>T	XP_011522023.1:p.Pro344Leu
XM_017024305.2:c.1031C>T	XP_016879794.1:p.Pro344Leu
XM_017024308.1:c.977C>T	XP_016879797.1:p.Pro326Leu
XM_017024309.2:c.755C>T	XP_016879798.1:p.Pro252Leu
XM_024450635.1:c.1031C>T	XP_024306403.1:p.Pro344Leu
XR_001752445.2:n.1535C>T
NM_144997.7:c.977C>T MANE Select	NP_659434.2:p.Pro326Leu
NM_001353229.2:c.1031C>T	NP_001340158.1:p.Pro344Leu
NM_001353230.2:c.977C>T	NP_001340159.1:p.Pro326Leu
NM_001353231.2:c.977C>T	NP_001340160.1:p.Pro326Leu