Canonical Allele Identifier: CA8416132

Gene: FLCN MPRIP

Linked Data

• ClinVar Variation Id: 840448
• ClinVar RCV Id: RCV001042440 ; RCV002348358 ; RCV003442156
• dbSNP Id: rs779913370
• ExAC: 17:17120409 C / T
• gnomAD v2: 17-17120409-C-T
• gnomAD v4: 17-17217095-C-T
• MyVariant Identifiers: chr17:g.17120409C>T (hg19) ; chr17:g.17217095C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17217095C>T , CM000679.2:g.17217095C>T	GRCh38
NC_000017.10:g.17120409C>T , CM000679.1:g.17120409C>T	GRCh37
NC_000017.9:g.17061134C>T	NCBI36
NG_008001.2:g.25094G>A , LRG_325:g.25094G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000285071.9:c.1150G>A (FLCN) MANE Select	ENSP00000285071.4:p.Val384Ile
ENST00000285071.8:c.1150G>A (FLCN)	ENSP00000285071.4:p.Val384Ile
ENST00000427497.3:c.272G>A	ENSP00000394249.3:p.Arg91His
ENST00000577591.1:n.173G>A (FLCN)
ENST00000578209.5:c.562-395C>T (MPRIP)
NM_144997.5:c.1150G>A , LRG_325t1:c.1150G>A (FLCN)	NP_659434.2:p.Val384Ile
XM_011523714.1:c.1204G>A (FLCN)	XP_011522016.1:p.Val402Ile
XM_011523715.1:c.1204G>A (FLCN)	XP_011522017.1:p.Val402Ile
XM_011523716.1:c.1204G>A (FLCN)	XP_011522018.1:p.Val402Ile
XM_011523717.1:c.1204G>A (FLCN)	XP_011522019.1:p.Val402Ile
XM_011523718.1:c.1204G>A (FLCN)	XP_011522020.1:p.Val402Ile
XM_011523719.1:c.1204G>A (FLCN)	XP_011522021.1:p.Val402Ile
XM_011523720.1:c.928G>A (FLCN)	XP_011522022.1:p.Val310Ile
XM_011523721.1:c.1204G>A (FLCN)	XP_011522023.1:p.Val402Ile
XR_934007.1:n.2544G>A (FLCN)
NM_001353229.1:c.1204G>A (FLCN)	NP_001340158.1:p.Val402Ile
NM_001353230.1:c.1150G>A (FLCN)	NP_001340159.1:p.Val384Ile
NM_001353231.1:c.1150G>A (FLCN)	NP_001340160.1:p.Val384Ile
NM_144997.6:c.1150G>A (FLCN)	NP_659434.2:p.Val384Ile
XM_011523714.3:c.1204G>A (FLCN)	XP_011522016.1:p.Val402Ile
XM_011523718.3:c.1204G>A (FLCN)	XP_011522020.1:p.Val402Ile
XM_011523719.3:c.1204G>A (FLCN)	XP_011522021.1:p.Val402Ile
XM_011523721.3:c.1204G>A (FLCN)	XP_011522023.1:p.Val402Ile
XM_017024305.2:c.1204G>A (FLCN)	XP_016879794.1:p.Val402Ile
XM_017024308.1:c.1150G>A (FLCN)	XP_016879797.1:p.Val384Ile
XM_017024309.2:c.928G>A (FLCN)	XP_016879798.1:p.Val310Ile
XM_024450635.1:c.1204G>A (FLCN)	XP_024306403.1:p.Val402Ile
XR_001752445.2:n.1708G>A (FLCN)
NM_144997.7:c.1150G>A (FLCN) MANE Select	NP_659434.2:p.Val384Ile
NM_001353229.2:c.1204G>A (FLCN)	NP_001340158.1:p.Val402Ile
NM_001353230.2:c.1150G>A (FLCN)	NP_001340159.1:p.Val384Ile
NM_001353231.2:c.1150G>A (FLCN)	NP_001340160.1:p.Val384Ile