Canonical Allele Identifier: CA8416482

Gene: FLCN

Linked Data

• ClinVar Variation Id: 322070
• ClinVar RCV Id: RCV000289424 ; RCV000383825 ; RCV000612124
• dbSNP Id: rs200103733
• ExAC: 17:17131190 C / G
• gnomAD v2: 17-17131190-C-G
• gnomAD v3: 17-17227876-C-G
• gnomAD v4: 17-17227876-C-G
• MyVariant Identifiers: chr17:g.17131190C>G (hg19) ; chr17:g.17227876C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17227876C>G , CM000679.2:g.17227876C>G	GRCh38
NC_000017.10:g.17131190C>G , CM000679.1:g.17131190C>G	GRCh37
NC_000017.9:g.17071915C>G	NCBI36
NG_008001.2:g.14313G>C , LRG_325:g.14313G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.249+13G>C MANE Select	ENSP00000285071.4:n.249+13G>C
ENST00000285071.8:c.249+13G>C	ENSP00000285071.4:n.249+13G>C
ENST00000389168.6:n.1589+13G>C
ENST00000389169.9:c.249+13G>C	ENSP00000373821.5:n.249+13G>C
ENST00000389171.4:n.753+13G>C
ENST00000417064.1:c.90+13G>C	ENSP00000410410.1:n.90+13G>C
ENST00000427497.3:c.148+114G>C	ENSP00000394249.3:n.148+114G>C
NM_144606.5:c.249+13G>C	NP_653207.1:n.249+13G>C
NM_144997.5:c.249+13G>C , LRG_325t1:c.249+13G>C	NP_659434.2:n.249+13G>C
XM_011523714.1:c.249+13G>C	XP_011522016.1:n.249+13G>C
XM_011523715.1:c.249+13G>C	XP_011522017.1:n.249+13G>C
XM_011523716.1:c.249+13G>C	XP_011522018.1:n.249+13G>C
XM_011523717.1:c.249+13G>C	XP_011522019.1:n.249+13G>C
XM_011523718.1:c.249+13G>C	XP_011522020.1:n.249+13G>C
XM_011523719.1:c.249+13G>C	XP_011522021.1:n.249+13G>C
XM_011523720.1:c.249+13G>C	XP_011522022.1:n.249+13G>C
XM_011523721.1:c.249+13G>C	XP_011522023.1:n.249+13G>C
XR_934007.1:n.1589+13G>C
NM_001353229.1:c.249+13G>C	NP_001340158.1:n.249+13G>C
NM_001353230.1:c.249+13G>C	NP_001340159.1:n.249+13G>C
NM_001353231.1:c.249+13G>C	NP_001340160.1:n.249+13G>C
NM_144606.6:c.249+13G>C	NP_653207.1:n.249+13G>C
NM_144997.6:c.249+13G>C	NP_659434.2:n.249+13G>C
XM_011523714.3:c.249+13G>C	XP_011522016.1:n.249+13G>C
XM_011523718.3:c.249+13G>C	XP_011522020.1:n.249+13G>C
XM_011523719.3:c.249+13G>C	XP_011522021.1:n.249+13G>C
XM_011523721.3:c.249+13G>C	XP_011522023.1:n.249+13G>C
XM_017024305.2:c.249+13G>C	XP_016879794.1:n.249+13G>C
XM_017024308.1:c.249+13G>C	XP_016879797.1:n.249+13G>C
XM_017024309.2:c.249+13G>C	XP_016879798.1:n.249+13G>C
XM_024450635.1:c.249+13G>C	XP_024306403.1:n.249+13G>C
XR_001752445.2:n.753+13G>C
NM_144997.7:c.249+13G>C MANE Select	NP_659434.2:n.249+13G>C
NM_001353229.2:c.249+13G>C	NP_001340158.1:n.249+13G>C
NM_001353230.2:c.249+13G>C	NP_001340159.1:n.249+13G>C
NM_001353231.2:c.249+13G>C	NP_001340160.1:n.249+13G>C
NM_144606.7:c.249+13G>C	NP_653207.1:n.249+13G>C