Canonical Allele Identifier: CA159801

Gene: FLCN

Linked Data

• ClinVar Variation Id: 41863
• ClinVar RCV Id: RCV000034797 ; RCV000121114 ; RCV000163434 ; RCV000226709 ; RCV000374324 ; RCV003952399
• dbSNP Id: rs143483053
• ExAC: 17:17122436 C / T
• gnomAD v2: 17-17122436-C-T
• gnomAD v3: 17-17219122-C-T
• gnomAD v4: 17-17219122-C-T
• MyVariant Identifiers: chr17:g.17122436C>T (hg19) ; chr17:g.17219122C>T (hg38)
• PubMed: PMID:14627671 ; PMID:20522427 ; PMID:21794948 ; PMID:22703879 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17219122C>T , CM000679.2:g.17219122C>T	GRCh38
NC_000017.10:g.17122436C>T , CM000679.1:g.17122436C>T	GRCh37
NC_000017.9:g.17063161C>T	NCBI36
NG_008001.2:g.23067G>A , LRG_325:g.23067G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.959G>A MANE Select	ENSP00000285071.4:p.Arg320Gln
ENST00000285071.8:c.959G>A	ENSP00000285071.4:p.Arg320Gln
ENST00000427497.3:c.149-68G>A	ENSP00000394249.3:n.149-68G>A
NM_144997.5:c.959G>A , LRG_325t1:c.959G>A	NP_659434.2:p.Arg320Gln
XM_011523714.1:c.1013G>A	XP_011522016.1:p.Arg338Gln
XM_011523715.1:c.1013G>A	XP_011522017.1:p.Arg338Gln
XM_011523716.1:c.1013G>A	XP_011522018.1:p.Arg338Gln
XM_011523717.1:c.1013G>A	XP_011522019.1:p.Arg338Gln
XM_011523718.1:c.1013G>A	XP_011522020.1:p.Arg338Gln
XM_011523719.1:c.1013G>A	XP_011522021.1:p.Arg338Gln
XM_011523720.1:c.737G>A	XP_011522022.1:p.Arg246Gln
XM_011523721.1:c.1013G>A	XP_011522023.1:p.Arg338Gln
XR_934007.1:n.2353G>A
NM_001353229.1:c.1013G>A	NP_001340158.1:p.Arg338Gln
NM_001353230.1:c.959G>A	NP_001340159.1:p.Arg320Gln
NM_001353231.1:c.959G>A	NP_001340160.1:p.Arg320Gln
NM_144997.6:c.959G>A	NP_659434.2:p.Arg320Gln
XM_011523714.3:c.1013G>A	XP_011522016.1:p.Arg338Gln
XM_011523718.3:c.1013G>A	XP_011522020.1:p.Arg338Gln
XM_011523719.3:c.1013G>A	XP_011522021.1:p.Arg338Gln
XM_011523721.3:c.1013G>A	XP_011522023.1:p.Arg338Gln
XM_017024305.2:c.1013G>A	XP_016879794.1:p.Arg338Gln
XM_017024308.1:c.959G>A	XP_016879797.1:p.Arg320Gln
XM_017024309.2:c.737G>A	XP_016879798.1:p.Arg246Gln
XM_024450635.1:c.1013G>A	XP_024306403.1:p.Arg338Gln
XR_001752445.2:n.1517G>A
NM_144997.7:c.959G>A MANE Select	NP_659434.2:p.Arg320Gln
NM_001353229.2:c.1013G>A	NP_001340158.1:p.Arg338Gln
NM_001353230.2:c.959G>A	NP_001340159.1:p.Arg320Gln
NM_001353231.2:c.959G>A	NP_001340160.1:p.Arg320Gln