Canonical Allele Identifier: CA398532721

Gene: FLCN

Linked Data

• ClinVar Variation Id: 1063850
• ClinVar RCV Id: RCV001373731
• dbSNP Id: rs375352888
• MyVariant Identifiers: chr17:g.17122373C>A (hg19) ; chr17:g.17219059C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17219059C>A , CM000679.2:g.17219059C>A	GRCh38
NC_000017.10:g.17122373C>A , CM000679.1:g.17122373C>A	GRCh37
NC_000017.9:g.17063098C>A	NCBI36
NG_008001.2:g.23130G>T , LRG_325:g.23130G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.1022G>T MANE Select	ENSP00000285071.4:p.Arg341Leu
ENST00000285071.8:c.1022G>T	ENSP00000285071.4:p.Arg341Leu
ENST00000427497.3:c.149-5G>T	ENSP00000394249.3:n.149-5G>T
ENST00000577591.1:n.45G>T
NM_144997.5:c.1022G>T , LRG_325t1:c.1022G>T	NP_659434.2:p.Arg341Leu
XM_011523714.1:c.1076G>T	XP_011522016.1:p.Arg359Leu
XM_011523715.1:c.1076G>T	XP_011522017.1:p.Arg359Leu
XM_011523716.1:c.1076G>T	XP_011522018.1:p.Arg359Leu
XM_011523717.1:c.1076G>T	XP_011522019.1:p.Arg359Leu
XM_011523718.1:c.1076G>T	XP_011522020.1:p.Arg359Leu
XM_011523719.1:c.1076G>T	XP_011522021.1:p.Arg359Leu
XM_011523720.1:c.800G>T	XP_011522022.1:p.Arg267Leu
XM_011523721.1:c.1076G>T	XP_011522023.1:p.Arg359Leu
XR_934007.1:n.2416G>T
NM_001353229.1:c.1076G>T	NP_001340158.1:p.Arg359Leu
NM_001353230.1:c.1022G>T	NP_001340159.1:p.Arg341Leu
NM_001353231.1:c.1022G>T	NP_001340160.1:p.Arg341Leu
NM_144997.6:c.1022G>T	NP_659434.2:p.Arg341Leu
XM_011523714.3:c.1076G>T	XP_011522016.1:p.Arg359Leu
XM_011523718.3:c.1076G>T	XP_011522020.1:p.Arg359Leu
XM_011523719.3:c.1076G>T	XP_011522021.1:p.Arg359Leu
XM_011523721.3:c.1076G>T	XP_011522023.1:p.Arg359Leu
XM_017024305.2:c.1076G>T	XP_016879794.1:p.Arg359Leu
XM_017024308.1:c.1022G>T	XP_016879797.1:p.Arg341Leu
XM_017024309.2:c.800G>T	XP_016879798.1:p.Arg267Leu
XM_024450635.1:c.1076G>T	XP_024306403.1:p.Arg359Leu
XR_001752445.2:n.1580G>T
NM_144997.7:c.1022G>T MANE Select	NP_659434.2:p.Arg341Leu
NM_001353229.2:c.1076G>T	NP_001340158.1:p.Arg359Leu
NM_001353230.2:c.1022G>T	NP_001340159.1:p.Arg341Leu
NM_001353231.2:c.1022G>T	NP_001340160.1:p.Arg341Leu