Canonical Allele Identifier: CA398533121

Gene: FLCN

Linked Data

• ClinVar Variation Id: 620629
• ClinVar RCV Id: RCV000761144 ; RCV001855937
• dbSNP Id: rs1567813248
• MyVariant Identifiers: chr17:g.17122524C>A (hg19) ; chr17:g.17219210C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17219210C>A , CM000679.2:g.17219210C>A	GRCh38
NC_000017.10:g.17122524C>A , CM000679.1:g.17122524C>A	GRCh37
NC_000017.9:g.17063249C>A	NCBI36
NG_008001.2:g.22979G>T , LRG_325:g.22979G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.872-1G>T MANE Select	ENSP00000285071.4:n.872-1G>T
ENST00000285071.8:c.872-1G>T	ENSP00000285071.4:n.872-1G>T
ENST00000427497.3:c.149-156G>T	ENSP00000394249.3:n.149-156G>T
NM_144997.5:c.872-1G>T , LRG_325t1:c.872-1G>T	NP_659434.2:n.872-1G>T
XM_011523714.1:c.926-1G>T	XP_011522016.1:n.926-1G>T
XM_011523715.1:c.926-1G>T	XP_011522017.1:n.926-1G>T
XM_011523716.1:c.926-1G>T	XP_011522018.1:n.926-1G>T
XM_011523717.1:c.926-1G>T	XP_011522019.1:n.926-1G>T
XM_011523718.1:c.926-1G>T	XP_011522020.1:n.926-1G>T
XM_011523719.1:c.926-1G>T	XP_011522021.1:n.926-1G>T
XM_011523720.1:c.650-1G>T	XP_011522022.1:n.650-1G>T
XM_011523721.1:c.926-1G>T	XP_011522023.1:n.926-1G>T
XR_934007.1:n.2266-1G>T
NM_001353229.1:c.926-1G>T	NP_001340158.1:n.926-1G>T
NM_001353230.1:c.872-1G>T	NP_001340159.1:n.872-1G>T
NM_001353231.1:c.872-1G>T	NP_001340160.1:n.872-1G>T
NM_144997.6:c.872-1G>T	NP_659434.2:n.872-1G>T
XM_011523714.3:c.926-1G>T	XP_011522016.1:n.926-1G>T
XM_011523718.3:c.926-1G>T	XP_011522020.1:n.926-1G>T
XM_011523719.3:c.926-1G>T	XP_011522021.1:n.926-1G>T
XM_011523721.3:c.926-1G>T	XP_011522023.1:n.926-1G>T
XM_017024305.2:c.926-1G>T	XP_016879794.1:n.926-1G>T
XM_017024308.1:c.872-1G>T	XP_016879797.1:n.872-1G>T
XM_017024309.2:c.650-1G>T	XP_016879798.1:n.650-1G>T
XM_024450635.1:c.926-1G>T	XP_024306403.1:n.926-1G>T
XR_001752445.2:n.1430-1G>T
NM_144997.7:c.872-1G>T MANE Select	NP_659434.2:n.872-1G>T
NM_001353229.2:c.926-1G>T	NP_001340158.1:n.926-1G>T
NM_001353230.2:c.872-1G>T	NP_001340159.1:n.872-1G>T
NM_001353231.2:c.872-1G>T	NP_001340160.1:n.872-1G>T