Canonical Allele Identifier: CA398533685

Gene: FLCN

Linked Data

• dbSNP Id: rs1060502367
• MyVariant Identifiers: chr17:g.17124884C>G (hg19) ; chr17:g.17221570C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17221570C>G , CM000679.2:g.17221570C>G	GRCh38
NC_000017.10:g.17124884C>G , CM000679.1:g.17124884C>G	GRCh37
NC_000017.9:g.17065609C>G	NCBI36
NG_008001.2:g.20619G>C , LRG_325:g.20619G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000285071.9:c.838G>C MANE Select	ENSP00000285071.4:p.Glu280Gln
ENST00000285071.8:c.838G>C	ENSP00000285071.4:p.Glu280Gln
ENST00000389169.9:c.838G>C	ENSP00000373821.5:p.Glu280Gln
ENST00000427497.3:c.149-2516G>C	ENSP00000394249.3:n.149-2516G>C
ENST00000466317.1:n.681G>C
NM_144606.5:c.838G>C	NP_653207.1:p.Glu280Gln
NM_144997.5:c.838G>C , LRG_325t1:c.838G>C	NP_659434.2:p.Glu280Gln
XM_011523714.1:c.892G>C	XP_011522016.1:p.Glu298Gln
XM_011523715.1:c.892G>C	XP_011522017.1:p.Glu298Gln
XM_011523716.1:c.892G>C	XP_011522018.1:p.Glu298Gln
XM_011523717.1:c.892G>C	XP_011522019.1:p.Glu298Gln
XM_011523718.1:c.892G>C	XP_011522020.1:p.Glu298Gln
XM_011523719.1:c.892G>C	XP_011522021.1:p.Glu298Gln
XM_011523720.1:c.616G>C	XP_011522022.1:p.Glu206Gln
XM_011523721.1:c.892G>C	XP_011522023.1:p.Glu298Gln
XR_934007.1:n.2232G>C
NM_001353229.1:c.892G>C	NP_001340158.1:p.Glu298Gln
NM_001353230.1:c.838G>C	NP_001340159.1:p.Glu280Gln
NM_001353231.1:c.838G>C	NP_001340160.1:p.Glu280Gln
NM_144606.6:c.838G>C	NP_653207.1:p.Glu280Gln
NM_144997.6:c.838G>C	NP_659434.2:p.Glu280Gln
XM_011523714.3:c.892G>C	XP_011522016.1:p.Glu298Gln
XM_011523718.3:c.892G>C	XP_011522020.1:p.Glu298Gln
XM_011523719.3:c.892G>C	XP_011522021.1:p.Glu298Gln
XM_011523721.3:c.892G>C	XP_011522023.1:p.Glu298Gln
XM_017024305.2:c.892G>C	XP_016879794.1:p.Glu298Gln
XM_017024308.1:c.838G>C	XP_016879797.1:p.Glu280Gln
XM_017024309.2:c.616G>C	XP_016879798.1:p.Glu206Gln
XM_024450635.1:c.892G>C	XP_024306403.1:p.Glu298Gln
XR_001752445.2:n.1396G>C
NM_144997.7:c.838G>C MANE Select	NP_659434.2:p.Glu280Gln
NM_001353229.2:c.892G>C	NP_001340158.1:p.Glu298Gln
NM_001353230.2:c.838G>C	NP_001340159.1:p.Glu280Gln
NM_001353231.2:c.838G>C	NP_001340160.1:p.Glu280Gln
NM_144606.7:c.838G>C	NP_653207.1:p.Glu280Gln