Canonical Allele Identifier: CA8416180

Gene: FLCN

Linked Data

• ClinVar Variation Id: 1634041
• ClinVar RCV Id: RCV002124310 ; RCV002382418
• dbSNP Id: rs773355729
• ExAC: 17:17122411 C / T
• gnomAD v2: 17-17122411-C-T
• gnomAD v4: 17-17219097-C-T
• MyVariant Identifiers: chr17:g.17122411C>T (hg19) ; chr17:g.17219097C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17219097C>T , CM000679.2:g.17219097C>T	GRCh38
NC_000017.10:g.17122411C>T , CM000679.1:g.17122411C>T	GRCh37
NC_000017.9:g.17063136C>T	NCBI36
NG_008001.2:g.23092G>A , LRG_325:g.23092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.984G>A MANE Select	ENSP00000285071.4:p.Glu328=
ENST00000285071.8:c.984G>A	ENSP00000285071.4:p.Glu328=
ENST00000427497.3:c.149-43G>A	ENSP00000394249.3:n.149-43G>A
ENST00000577591.1:n.7G>A
NM_144997.5:c.984G>A , LRG_325t1:c.984G>A	NP_659434.2:p.Glu328=
XM_011523714.1:c.1038G>A	XP_011522016.1:p.Glu346=
XM_011523715.1:c.1038G>A	XP_011522017.1:p.Glu346=
XM_011523716.1:c.1038G>A	XP_011522018.1:p.Glu346=
XM_011523717.1:c.1038G>A	XP_011522019.1:p.Glu346=
XM_011523718.1:c.1038G>A	XP_011522020.1:p.Glu346=
XM_011523719.1:c.1038G>A	XP_011522021.1:p.Glu346=
XM_011523720.1:c.762G>A	XP_011522022.1:p.Glu254=
XM_011523721.1:c.1038G>A	XP_011522023.1:p.Glu346=
XR_934007.1:n.2378G>A
NM_001353229.1:c.1038G>A	NP_001340158.1:p.Glu346=
NM_001353230.1:c.984G>A	NP_001340159.1:p.Glu328=
NM_001353231.1:c.984G>A	NP_001340160.1:p.Glu328=
NM_144997.6:c.984G>A	NP_659434.2:p.Glu328=
XM_011523714.3:c.1038G>A	XP_011522016.1:p.Glu346=
XM_011523718.3:c.1038G>A	XP_011522020.1:p.Glu346=
XM_011523719.3:c.1038G>A	XP_011522021.1:p.Glu346=
XM_011523721.3:c.1038G>A	XP_011522023.1:p.Glu346=
XM_017024305.2:c.1038G>A	XP_016879794.1:p.Glu346=
XM_017024308.1:c.984G>A	XP_016879797.1:p.Glu328=
XM_017024309.2:c.762G>A	XP_016879798.1:p.Glu254=
XM_024450635.1:c.1038G>A	XP_024306403.1:p.Glu346=
XR_001752445.2:n.1542G>A
NM_144997.7:c.984G>A MANE Select	NP_659434.2:p.Glu328=
NM_001353229.2:c.1038G>A	NP_001340158.1:p.Glu346=
NM_001353230.2:c.984G>A	NP_001340159.1:p.Glu328=
NM_001353231.2:c.984G>A	NP_001340160.1:p.Glu328=