Canonical Allele Identifier: CA398533057

Gene: FLCN

Linked Data

• MyVariant Identifiers: chr17:g.17122498C>A (hg19) ; chr17:g.17219184C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17219184C>A , CM000679.2:g.17219184C>A	GRCh38
NC_000017.10:g.17122498C>A , CM000679.1:g.17122498C>A	GRCh37
NC_000017.9:g.17063223C>A	NCBI36
NG_008001.2:g.23005G>T , LRG_325:g.23005G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.897G>T MANE Select	ENSP00000285071.4:p.Trp299Cys
ENST00000285071.8:c.897G>T	ENSP00000285071.4:p.Trp299Cys
ENST00000427497.3:c.149-130G>T	ENSP00000394249.3:n.149-130G>T
NM_144997.5:c.897G>T , LRG_325t1:c.897G>T	NP_659434.2:p.Trp299Cys
XM_011523714.1:c.951G>T	XP_011522016.1:p.Trp317Cys
XM_011523715.1:c.951G>T	XP_011522017.1:p.Trp317Cys
XM_011523716.1:c.951G>T	XP_011522018.1:p.Trp317Cys
XM_011523717.1:c.951G>T	XP_011522019.1:p.Trp317Cys
XM_011523718.1:c.951G>T	XP_011522020.1:p.Trp317Cys
XM_011523719.1:c.951G>T	XP_011522021.1:p.Trp317Cys
XM_011523720.1:c.675G>T	XP_011522022.1:p.Trp225Cys
XM_011523721.1:c.951G>T	XP_011522023.1:p.Trp317Cys
XR_934007.1:n.2291G>T
NM_001353229.1:c.951G>T	NP_001340158.1:p.Trp317Cys
NM_001353230.1:c.897G>T	NP_001340159.1:p.Trp299Cys
NM_001353231.1:c.897G>T	NP_001340160.1:p.Trp299Cys
NM_144997.6:c.897G>T	NP_659434.2:p.Trp299Cys
XM_011523714.3:c.951G>T	XP_011522016.1:p.Trp317Cys
XM_011523718.3:c.951G>T	XP_011522020.1:p.Trp317Cys
XM_011523719.3:c.951G>T	XP_011522021.1:p.Trp317Cys
XM_011523721.3:c.951G>T	XP_011522023.1:p.Trp317Cys
XM_017024305.2:c.951G>T	XP_016879794.1:p.Trp317Cys
XM_017024308.1:c.897G>T	XP_016879797.1:p.Trp299Cys
XM_017024309.2:c.675G>T	XP_016879798.1:p.Trp225Cys
XM_024450635.1:c.951G>T	XP_024306403.1:p.Trp317Cys
XR_001752445.2:n.1455G>T
NM_144997.7:c.897G>T MANE Select	NP_659434.2:p.Trp299Cys
NM_001353229.2:c.951G>T	NP_001340158.1:p.Trp317Cys
NM_001353230.2:c.897G>T	NP_001340159.1:p.Trp299Cys
NM_001353231.2:c.897G>T	NP_001340160.1:p.Trp299Cys