Canonical Allele Identifier: CA398534559

Gene: FLCN

Linked Data

• ClinVar Variation Id: 1013660
• ClinVar RCV Id: RCV001312283
• dbSNP Id: rs2047180211
• MyVariant Identifiers: chr17:g.17127414T>G (hg19) ; chr17:g.17224100T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17224100T>G , CM000679.2:g.17224100T>G	GRCh38
NC_000017.10:g.17127414T>G , CM000679.1:g.17127414T>G	GRCh37
NC_000017.9:g.17068139T>G	NCBI36
NG_008001.2:g.18089A>C , LRG_325:g.18089A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000285071.9:c.440A>C MANE Select	ENSP00000285071.4:p.Gln147Pro
ENST00000285071.8:c.440A>C	ENSP00000285071.4:p.Gln147Pro
ENST00000389169.9:c.440A>C	ENSP00000373821.5:p.Gln147Pro
ENST00000417064.1:c.281A>C	ENSP00000410410.1:p.Gln94Pro
ENST00000427497.3:c.148+3890A>C	ENSP00000394249.3:n.148+3890A>C
ENST00000480316.1:n.406A>C
NM_144606.5:c.440A>C	NP_653207.1:p.Gln147Pro
NM_144997.5:c.440A>C , LRG_325t1:c.440A>C	NP_659434.2:p.Gln147Pro
XM_011523714.1:c.494A>C	XP_011522016.1:p.Gln165Pro
XM_011523715.1:c.494A>C	XP_011522017.1:p.Gln165Pro
XM_011523716.1:c.494A>C	XP_011522018.1:p.Gln165Pro
XM_011523717.1:c.494A>C	XP_011522019.1:p.Gln165Pro
XM_011523718.1:c.494A>C	XP_011522020.1:p.Gln165Pro
XM_011523719.1:c.494A>C	XP_011522021.1:p.Gln165Pro
XM_011523720.1:c.397-1439A>C	XP_011522022.1:n.397-1439A>C
XM_011523721.1:c.494A>C	XP_011522023.1:p.Gln165Pro
XR_934007.1:n.1834A>C
NM_001353229.1:c.494A>C	NP_001340158.1:p.Gln165Pro
NM_001353230.1:c.440A>C	NP_001340159.1:p.Gln147Pro
NM_001353231.1:c.440A>C	NP_001340160.1:p.Gln147Pro
NM_144606.6:c.440A>C	NP_653207.1:p.Gln147Pro
NM_144997.6:c.440A>C	NP_659434.2:p.Gln147Pro
XM_011523714.3:c.494A>C	XP_011522016.1:p.Gln165Pro
XM_011523718.3:c.494A>C	XP_011522020.1:p.Gln165Pro
XM_011523719.3:c.494A>C	XP_011522021.1:p.Gln165Pro
XM_011523721.3:c.494A>C	XP_011522023.1:p.Gln165Pro
XM_017024305.2:c.494A>C	XP_016879794.1:p.Gln165Pro
XM_017024308.1:c.440A>C	XP_016879797.1:p.Gln147Pro
XM_017024309.2:c.397-1439A>C	XP_016879798.1:n.397-1439A>C
XM_024450635.1:c.494A>C	XP_024306403.1:p.Gln165Pro
XR_001752445.2:n.998A>C
NM_144997.7:c.440A>C MANE Select	NP_659434.2:p.Gln147Pro
NM_001353229.2:c.494A>C	NP_001340158.1:p.Gln165Pro
NM_001353230.2:c.440A>C	NP_001340159.1:p.Gln147Pro
NM_001353231.2:c.440A>C	NP_001340160.1:p.Gln147Pro
NM_144606.7:c.440A>C	NP_653207.1:p.Gln147Pro