Canonical Allele Identifier: CA166645

Gene: FLCN

Linked Data

• ClinVar Variation Id: 141865
• ClinVar RCV Id: RCV000130556 ; RCV000239654 ; RCV000255173 ; RCV002498642
• dbSNP Id: rs587782069
• gnomAD v4: 17-17224041-G-A
• MyVariant Identifiers: chr17:g.17127355G>A (hg19) ; chr17:g.17224041G>A (hg38)
• PubMed: PMID:23264078 ; PMID:23784378 ; PMID:26603437 ; PMID:27257988

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17224041G>A , CM000679.2:g.17224041G>A	GRCh38
NC_000017.10:g.17127355G>A , CM000679.1:g.17127355G>A	GRCh37
NC_000017.9:g.17068080G>A	NCBI36
NG_008001.2:g.18148C>T , LRG_325:g.18148C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.499C>T MANE Select	ENSP00000285071.4:p.Gln167Ter
ENST00000285071.8:c.499C>T	ENSP00000285071.4:p.Gln167Ter
ENST00000389169.9:c.499C>T	ENSP00000373821.5:p.Gln167Ter
ENST00000417064.1:c.340C>T	ENSP00000410410.1:p.Gln114Ter
ENST00000427497.3:c.148+3949C>T	ENSP00000394249.3:n.148+3949C>T
ENST00000480316.1:n.465C>T
NM_144606.5:c.499C>T	NP_653207.1:p.Gln167Ter
NM_144997.5:c.499C>T , LRG_325t1:c.499C>T	NP_659434.2:p.Gln167Ter
XM_011523714.1:c.553C>T	XP_011522016.1:p.Gln185Ter
XM_011523715.1:c.553C>T	XP_011522017.1:p.Gln185Ter
XM_011523716.1:c.553C>T	XP_011522018.1:p.Gln185Ter
XM_011523717.1:c.553C>T	XP_011522019.1:p.Gln185Ter
XM_011523718.1:c.553C>T	XP_011522020.1:p.Gln185Ter
XM_011523719.1:c.553C>T	XP_011522021.1:p.Gln185Ter
XM_011523720.1:c.397-1380C>T	XP_011522022.1:n.397-1380C>T
XM_011523721.1:c.553C>T	XP_011522023.1:p.Gln185Ter
XR_934007.1:n.1893C>T
NM_001353229.1:c.553C>T	NP_001340158.1:p.Gln185Ter
NM_001353230.1:c.499C>T	NP_001340159.1:p.Gln167Ter
NM_001353231.1:c.499C>T	NP_001340160.1:p.Gln167Ter
NM_144606.6:c.499C>T	NP_653207.1:p.Gln167Ter
NM_144997.6:c.499C>T	NP_659434.2:p.Gln167Ter
XM_011523714.3:c.553C>T	XP_011522016.1:p.Gln185Ter
XM_011523718.3:c.553C>T	XP_011522020.1:p.Gln185Ter
XM_011523719.3:c.553C>T	XP_011522021.1:p.Gln185Ter
XM_011523721.3:c.553C>T	XP_011522023.1:p.Gln185Ter
XM_017024305.2:c.553C>T	XP_016879794.1:p.Gln185Ter
XM_017024308.1:c.499C>T	XP_016879797.1:p.Gln167Ter
XM_017024309.2:c.397-1380C>T	XP_016879798.1:n.397-1380C>T
XM_024450635.1:c.553C>T	XP_024306403.1:p.Gln185Ter
XR_001752445.2:n.1057C>T
NM_144997.7:c.499C>T MANE Select	NP_659434.2:p.Gln167Ter
NM_001353229.2:c.553C>T	NP_001340158.1:p.Gln185Ter
NM_001353230.2:c.499C>T	NP_001340159.1:p.Gln167Ter
NM_001353231.2:c.499C>T	NP_001340160.1:p.Gln167Ter
NM_144606.7:c.499C>T	NP_653207.1:p.Gln167Ter