Canonical Allele Identifier: CA8416176

Gene: FLCN

Linked Data

• ClinVar Variation Id: 1768679
• ClinVar RCV Id: RCV002382896
• dbSNP Id: rs768940625
• ExAC: 17:17122402 A / G
• gnomAD v2: 17-17122402-A-G
• gnomAD v4: 17-17219088-A-G
• MyVariant Identifiers: chr17:g.17122402A>G (hg19) ; chr17:g.17219088A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17219088A>G , CM000679.2:g.17219088A>G	GRCh38
NC_000017.10:g.17122402A>G , CM000679.1:g.17122402A>G	GRCh37
NC_000017.9:g.17063127A>G	NCBI36
NG_008001.2:g.23101T>C , LRG_325:g.23101T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.993T>C MANE Select	ENSP00000285071.4:p.Ser331=
ENST00000285071.8:c.993T>C	ENSP00000285071.4:p.Ser331=
ENST00000427497.3:c.149-34T>C	ENSP00000394249.3:n.149-34T>C
ENST00000577591.1:n.16T>C
NM_144997.5:c.993T>C , LRG_325t1:c.993T>C	NP_659434.2:p.Ser331=
XM_011523714.1:c.1047T>C	XP_011522016.1:p.Ser349=
XM_011523715.1:c.1047T>C	XP_011522017.1:p.Ser349=
XM_011523716.1:c.1047T>C	XP_011522018.1:p.Ser349=
XM_011523717.1:c.1047T>C	XP_011522019.1:p.Ser349=
XM_011523718.1:c.1047T>C	XP_011522020.1:p.Ser349=
XM_011523719.1:c.1047T>C	XP_011522021.1:p.Ser349=
XM_011523720.1:c.771T>C	XP_011522022.1:p.Ser257=
XM_011523721.1:c.1047T>C	XP_011522023.1:p.Ser349=
XR_934007.1:n.2387T>C
NM_001353229.1:c.1047T>C	NP_001340158.1:p.Ser349=
NM_001353230.1:c.993T>C	NP_001340159.1:p.Ser331=
NM_001353231.1:c.993T>C	NP_001340160.1:p.Ser331=
NM_144997.6:c.993T>C	NP_659434.2:p.Ser331=
XM_011523714.3:c.1047T>C	XP_011522016.1:p.Ser349=
XM_011523718.3:c.1047T>C	XP_011522020.1:p.Ser349=
XM_011523719.3:c.1047T>C	XP_011522021.1:p.Ser349=
XM_011523721.3:c.1047T>C	XP_011522023.1:p.Ser349=
XM_017024305.2:c.1047T>C	XP_016879794.1:p.Ser349=
XM_017024308.1:c.993T>C	XP_016879797.1:p.Ser331=
XM_017024309.2:c.771T>C	XP_016879798.1:p.Ser257=
XM_024450635.1:c.1047T>C	XP_024306403.1:p.Ser349=
XR_001752445.2:n.1551T>C
NM_144997.7:c.993T>C MANE Select	NP_659434.2:p.Ser331=
NM_001353229.2:c.1047T>C	NP_001340158.1:p.Ser349=
NM_001353230.2:c.993T>C	NP_001340159.1:p.Ser331=
NM_001353231.2:c.993T>C	NP_001340160.1:p.Ser331=