Canonical Allele Identifier: CA224181

Gene: FLCN

Linked Data

• ClinVar Variation Id: 96493
• ClinVar RCV Id: RCV000082645 ; RCV000239656 ; RCV000492117 ; RCV000781384
• dbSNP Id: rs398124542
• gnomAD v4: 17-17219126-C-CTTCTGTACTCTCTGGCAACACAGGGGCT
• MyVariant Identifiers: chr17:g.17122441_17122468dup (hg19) ; chr17:g.17122441_17122468dup28 (hg19) ; chr17:g.17122440_17122441insTTCTGTACTCTCTGGCAACACAGGGGCT (hg19) ; chr17:g.17219127_17219154dup28 (hg38) ; chr17:g.17219126_17219127insTTCTGTACTCTCTGGCAACACAGGGGCT (hg38)
• PubMed: PMID:12204536 ; PMID:19562744 ; PMID:21506000 ; PMID:23757202 ; PMID:26402642 ; PMID:29138412

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17219131_17219158dup , CM000679.2:g.17219131_17219158dup	GRCh38
NC_000017.10:g.17122445_17122472dup , CM000679.1:g.17122445_17122472dup	GRCh37
NC_000017.9:g.17063170_17063197dup	NCBI36
NG_008001.2:g.23035_23062dup , LRG_325:g.23035_23062dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.927_954dup MANE Select	ENSP00000285071.4:p.Gly319SerfsTer?
ENST00000285071.8:c.927_954dup	ENSP00000285071.4:p.Gly319SerfsTer?
ENST00000427497.3:c.149-100_149-73dup	ENSP00000394249.3:n.149-100_149-73dup
NM_144997.5:c.927_954dup , LRG_325t1:c.927_954dup	NP_659434.2:p.Gly319SerfsTer?
XM_011523714.1:c.981_1008dup	XP_011522016.1:p.Gly337SerfsTer?
XM_011523715.1:c.981_1008dup	XP_011522017.1:p.Gly337SerfsTer?
XM_011523716.1:c.981_1008dup	XP_011522018.1:p.Gly337SerfsTer?
XM_011523717.1:c.981_1008dup	XP_011522019.1:p.Gly337SerfsTer?
XM_011523718.1:c.981_1008dup	XP_011522020.1:p.Gly337SerfsTer?
XM_011523719.1:c.981_1008dup	XP_011522021.1:p.Gly337SerfsTer?
XM_011523720.1:c.705_732dup	XP_011522022.1:p.Gly245SerfsTer?
XM_011523721.1:c.981_1008dup	XP_011522023.1:p.Gly337SerfsTer?
XR_934007.1:n.2321_2348dup
NM_001353229.1:c.981_1008dup	NP_001340158.1:p.Gly337SerfsTer?
NM_001353230.1:c.927_954dup	NP_001340159.1:p.Gly319SerfsTer?
NM_001353231.1:c.927_954dup	NP_001340160.1:p.Gly319SerfsTer?
NM_144997.6:c.927_954dup	NP_659434.2:p.Gly319SerfsTer?
XM_011523714.3:c.981_1008dup	XP_011522016.1:p.Gly337SerfsTer?
XM_011523718.3:c.981_1008dup	XP_011522020.1:p.Gly337SerfsTer?
XM_011523719.3:c.981_1008dup	XP_011522021.1:p.Gly337SerfsTer?
XM_011523721.3:c.981_1008dup	XP_011522023.1:p.Gly337SerfsTer?
XM_017024305.2:c.981_1008dup	XP_016879794.1:p.Gly337SerfsTer?
XM_017024308.1:c.927_954dup	XP_016879797.1:p.Gly319SerfsTer?
XM_017024309.2:c.705_732dup	XP_016879798.1:p.Gly245SerfsTer?
XM_024450635.1:c.981_1008dup	XP_024306403.1:p.Gly337SerfsTer?
XR_001752445.2:n.1485_1512dup
NM_144997.7:c.927_954dup MANE Select	NP_659434.2:p.Gly319SerfsTer?
NM_001353229.2:c.981_1008dup	NP_001340158.1:p.Gly337SerfsTer?
NM_001353230.2:c.927_954dup	NP_001340159.1:p.Gly319SerfsTer?
NM_001353231.2:c.927_954dup	NP_001340160.1:p.Gly319SerfsTer?