Canonical Allele Identifier: CA8415912

Gene: FLCN MPRIP

Linked Data

• ClinVar Variation Id: 819901
• ClinVar RCV Id: RCV001012834 ; RCV001242710 ; RCV003493773
• dbSNP Id: rs752161850
• ExAC: 17:17117001 G / A
• gnomAD v2: 17-17117001-G-A
• gnomAD v4: 17-17213687-G-A
• MyVariant Identifiers: chr17:g.17117001G>A (hg19) ; chr17:g.17213687G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17213687G>A , CM000679.2:g.17213687G>A	GRCh38
NC_000017.10:g.17117001G>A , CM000679.1:g.17117001G>A	GRCh37
NC_000017.9:g.17057726G>A	NCBI36
NG_008001.2:g.28502C>T , LRG_325:g.28502C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.1708C>T (FLCN) MANE Select	ENSP00000285071.4:p.Arg570Cys
ENST00000285071.8:c.1708C>T (FLCN)	ENSP00000285071.4:p.Arg570Cys
ENST00000427497.3:c.*372+1298C>T	ENSP00000394249.3:n.*372+1298C>T
ENST00000578209.5:c.562-3803G>A (MPRIP)
NM_144997.5:c.1708C>T , LRG_325t1:c.1708C>T (FLCN)	NP_659434.2:p.Arg570Cys
XM_011523714.1:c.1762C>T (FLCN)	XP_011522016.1:p.Arg588Cys
XM_011523715.1:c.1762C>T (FLCN)	XP_011522017.1:p.Arg588Cys
XM_011523716.1:c.1762C>T (FLCN)	XP_011522018.1:p.Arg588Cys
XM_011523717.1:c.1762C>T (FLCN)	XP_011522019.1:p.Arg588Cys
XM_011523718.1:c.1762C>T (FLCN)	XP_011522020.1:p.Arg588Cys
XM_011523719.1:c.1592+1298C>T (FLCN)	XP_011522021.1:n.1592+1298C>T
XM_011523720.1:c.1486C>T (FLCN)	XP_011522022.1:p.Arg496Cys
XM_011523721.1:c.1762C>T (FLCN)	XP_011522023.1:p.Arg588Cys
NM_001353229.1:c.1762C>T (FLCN)	NP_001340158.1:p.Arg588Cys
NM_001353230.1:c.1708C>T (FLCN)	NP_001340159.1:p.Arg570Cys
NM_001353231.1:c.1708C>T (FLCN)	NP_001340160.1:p.Arg570Cys
NM_144997.6:c.1708C>T (FLCN)	NP_659434.2:p.Arg570Cys
XM_011523714.3:c.1762C>T (FLCN)	XP_011522016.1:p.Arg588Cys
XM_011523718.3:c.1762C>T (FLCN)	XP_011522020.1:p.Arg588Cys
XM_011523719.3:c.1592+1298C>T (FLCN)	XP_011522021.1:n.1592+1298C>T
XM_011523721.3:c.1762C>T (FLCN)	XP_011522023.1:p.Arg588Cys
XM_017024305.2:c.1762C>T (FLCN)	XP_016879794.1:p.Arg588Cys
XM_017024308.1:c.1708C>T (FLCN)	XP_016879797.1:p.Arg570Cys
XM_017024309.2:c.1486C>T (FLCN)	XP_016879798.1:p.Arg496Cys
XM_024450635.1:c.1762C>T (FLCN)	XP_024306403.1:p.Arg588Cys
XR_001752445.2:n.2142C>T (FLCN)
NM_144997.7:c.1708C>T (FLCN) MANE Select	NP_659434.2:p.Arg570Cys
NM_001353229.2:c.1762C>T (FLCN)	NP_001340158.1:p.Arg588Cys
NM_001353230.2:c.1708C>T (FLCN)	NP_001340159.1:p.Arg570Cys
NM_001353231.2:c.1708C>T (FLCN)	NP_001340160.1:p.Arg570Cys