Canonical Allele Identifier: CA8416183

Gene: FLCN

Linked Data

• ClinVar Variation Id: 409404
• ClinVar RCV Id: RCV000474054 ; RCV002379460
• dbSNP Id: rs751478971
• ExAC: 17:17122419 G / A
• gnomAD v2: 17-17122419-G-A
• gnomAD v4: 17-17219105-G-A
• COSMIC: COSM3514717
• MyVariant Identifiers: chr17:g.17122419G>A (hg19) ; chr17:g.17219105G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17219105G>A , CM000679.2:g.17219105G>A	GRCh38
NC_000017.10:g.17122419G>A , CM000679.1:g.17122419G>A	GRCh37
NC_000017.9:g.17063144G>A	NCBI36
NG_008001.2:g.23084C>T , LRG_325:g.23084C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.976C>T MANE Select	ENSP00000285071.4:p.Pro326Ser
ENST00000285071.8:c.976C>T	ENSP00000285071.4:p.Pro326Ser
ENST00000427497.3:c.149-51C>T	ENSP00000394249.3:n.149-51C>T
NM_144997.5:c.976C>T , LRG_325t1:c.976C>T	NP_659434.2:p.Pro326Ser
XM_011523714.1:c.1030C>T	XP_011522016.1:p.Pro344Ser
XM_011523715.1:c.1030C>T	XP_011522017.1:p.Pro344Ser
XM_011523716.1:c.1030C>T	XP_011522018.1:p.Pro344Ser
XM_011523717.1:c.1030C>T	XP_011522019.1:p.Pro344Ser
XM_011523718.1:c.1030C>T	XP_011522020.1:p.Pro344Ser
XM_011523719.1:c.1030C>T	XP_011522021.1:p.Pro344Ser
XM_011523720.1:c.754C>T	XP_011522022.1:p.Pro252Ser
XM_011523721.1:c.1030C>T	XP_011522023.1:p.Pro344Ser
XR_934007.1:n.2370C>T
NM_001353229.1:c.1030C>T	NP_001340158.1:p.Pro344Ser
NM_001353230.1:c.976C>T	NP_001340159.1:p.Pro326Ser
NM_001353231.1:c.976C>T	NP_001340160.1:p.Pro326Ser
NM_144997.6:c.976C>T	NP_659434.2:p.Pro326Ser
XM_011523714.3:c.1030C>T	XP_011522016.1:p.Pro344Ser
XM_011523718.3:c.1030C>T	XP_011522020.1:p.Pro344Ser
XM_011523719.3:c.1030C>T	XP_011522021.1:p.Pro344Ser
XM_011523721.3:c.1030C>T	XP_011522023.1:p.Pro344Ser
XM_017024305.2:c.1030C>T	XP_016879794.1:p.Pro344Ser
XM_017024308.1:c.976C>T	XP_016879797.1:p.Pro326Ser
XM_017024309.2:c.754C>T	XP_016879798.1:p.Pro252Ser
XM_024450635.1:c.1030C>T	XP_024306403.1:p.Pro344Ser
XR_001752445.2:n.1534C>T
NM_144997.7:c.976C>T MANE Select	NP_659434.2:p.Pro326Ser
NM_001353229.2:c.1030C>T	NP_001340158.1:p.Pro344Ser
NM_001353230.2:c.976C>T	NP_001340159.1:p.Pro326Ser
NM_001353231.2:c.976C>T	NP_001340160.1:p.Pro326Ser