Canonical Allele Identifier: CA398535110

Gene: FLCN

Linked Data

• ClinVar Variation Id: 1049988
• ClinVar RCV Id: RCV001356755
• dbSNP Id: rs2145040935
• MyVariant Identifiers: chr17:g.17131249C>T (hg19) ; chr17:g.17227935C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17227935C>T , CM000679.2:g.17227935C>T	GRCh38
NC_000017.10:g.17131249C>T , CM000679.1:g.17131249C>T	GRCh37
NC_000017.9:g.17071974C>T	NCBI36
NG_008001.2:g.14254G>A , LRG_325:g.14254G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.203G>A MANE Select	ENSP00000285071.4:p.Ser68Asn
ENST00000285071.8:c.203G>A	ENSP00000285071.4:p.Ser68Asn
ENST00000389168.6:n.1543G>A
ENST00000389169.9:c.203G>A	ENSP00000373821.5:p.Ser68Asn
ENST00000389171.4:n.707G>A
ENST00000417064.1:c.44G>A	ENSP00000410410.1:p.Ser15Asn
ENST00000427497.3:c.148+55G>A	ENSP00000394249.3:n.148+55G>A
NM_144606.5:c.203G>A	NP_653207.1:p.Ser68Asn
NM_144997.5:c.203G>A , LRG_325t1:c.203G>A	NP_659434.2:p.Ser68Asn
XM_011523714.1:c.203G>A	XP_011522016.1:p.Ser68Asn
XM_011523715.1:c.203G>A	XP_011522017.1:p.Ser68Asn
XM_011523716.1:c.203G>A	XP_011522018.1:p.Ser68Asn
XM_011523717.1:c.203G>A	XP_011522019.1:p.Ser68Asn
XM_011523718.1:c.203G>A	XP_011522020.1:p.Ser68Asn
XM_011523719.1:c.203G>A	XP_011522021.1:p.Ser68Asn
XM_011523720.1:c.203G>A	XP_011522022.1:p.Ser68Asn
XM_011523721.1:c.203G>A	XP_011522023.1:p.Ser68Asn
XR_934007.1:n.1543G>A
NM_001353229.1:c.203G>A	NP_001340158.1:p.Ser68Asn
NM_001353230.1:c.203G>A	NP_001340159.1:p.Ser68Asn
NM_001353231.1:c.203G>A	NP_001340160.1:p.Ser68Asn
NM_144606.6:c.203G>A	NP_653207.1:p.Ser68Asn
NM_144997.6:c.203G>A	NP_659434.2:p.Ser68Asn
XM_011523714.3:c.203G>A	XP_011522016.1:p.Ser68Asn
XM_011523718.3:c.203G>A	XP_011522020.1:p.Ser68Asn
XM_011523719.3:c.203G>A	XP_011522021.1:p.Ser68Asn
XM_011523721.3:c.203G>A	XP_011522023.1:p.Ser68Asn
XM_017024305.2:c.203G>A	XP_016879794.1:p.Ser68Asn
XM_017024308.1:c.203G>A	XP_016879797.1:p.Ser68Asn
XM_017024309.2:c.203G>A	XP_016879798.1:p.Ser68Asn
XM_024450635.1:c.203G>A	XP_024306403.1:p.Ser68Asn
XR_001752445.2:n.707G>A
NM_144997.7:c.203G>A MANE Select	NP_659434.2:p.Ser68Asn
NM_001353229.2:c.203G>A	NP_001340158.1:p.Ser68Asn
NM_001353230.2:c.203G>A	NP_001340159.1:p.Ser68Asn
NM_001353231.2:c.203G>A	NP_001340160.1:p.Ser68Asn
NM_144606.7:c.203G>A	NP_653207.1:p.Ser68Asn