Canonical Allele Identifier: CA625015434

Gene: FLCN

Linked Data

• dbSNP Id: rs1461750251
• gnomAD v2: 17-17131829-A-G
• gnomAD v3: 17-17228515-A-G
• gnomAD v4: 17-17228515-A-G
• MyVariant Identifiers: chr17:g.17131829A>G (hg19) ; chr17:g.17228515A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17228515A>G , CM000679.2:g.17228515A>G	GRCh38
NC_000017.10:g.17131829A>G , CM000679.1:g.17131829A>G	GRCh37
NC_000017.9:g.17072554A>G	NCBI36
NG_008001.2:g.13674T>C , LRG_325:g.13674T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.-24-354T>C MANE Select	ENSP00000285071.4:n.-24-354T>C
ENST00000285071.8:c.-24-354T>C	ENSP00000285071.4:n.-24-354T>C
ENST00000389168.6:n.963T>C
ENST00000389169.9:c.-24-354T>C	ENSP00000373821.5:n.-24-354T>C
ENST00000389171.4:n.481-354T>C
ENST00000417064.1:c.-27-510T>C	ENSP00000410410.1:n.-27-510T>C
ENST00000427497.3:c.-24-354T>C	ENSP00000394249.3:n.-24-354T>C
ENST00000461699.1:c.-25+108T>C	ENSP00000463970.1:n.-25+108T>C
NM_144606.5:c.-24-354T>C	NP_653207.1:n.-24-354T>C
NM_144997.5:c.-24-354T>C , LRG_325t1:c.-24-354T>C	NP_659434.2:n.-24-354T>C
XM_011523714.1:c.-24-354T>C	XP_011522016.1:n.-24-354T>C
XM_011523715.1:c.-378T>C	XP_011522017.1:n.-378T>C
XM_011523716.1:c.-25+108T>C	XP_011522018.1:n.-25+108T>C
XM_011523717.1:c.-378T>C	XP_011522019.1:n.-378T>C
XM_011523718.1:c.-24-354T>C	XP_011522020.1:n.-24-354T>C
XM_011523719.1:c.-378T>C	XP_011522021.1:n.-378T>C
XM_011523720.1:c.-378T>C	XP_011522022.1:n.-378T>C
XM_011523721.1:c.-24-354T>C	XP_011522023.1:n.-24-354T>C
XR_934007.1:n.963T>C
NM_001353229.1:c.-24-354T>C	NP_001340158.1:n.-24-354T>C
NM_001353230.1:c.-25+108T>C	NP_001340159.1:n.-25+108T>C
NM_001353231.1:c.-25+108T>C	NP_001340160.1:n.-25+108T>C
NM_144606.6:c.-24-354T>C	NP_653207.1:n.-24-354T>C
NM_144997.6:c.-24-354T>C	NP_659434.2:n.-24-354T>C
XM_011523714.3:c.-24-354T>C	XP_011522016.1:n.-24-354T>C
XM_011523718.3:c.-24-354T>C	XP_011522020.1:n.-24-354T>C
XM_011523719.3:c.-24-354T>C	XP_011522021.1:n.-24-354T>C
XM_011523721.3:c.-24-354T>C	XP_011522023.1:n.-24-354T>C
XM_017024305.2:c.-25+108T>C	XP_016879794.1:n.-25+108T>C
XM_017024308.1:c.-25+108T>C	XP_016879797.1:n.-25+108T>C
XM_017024309.2:c.-24-354T>C	XP_016879798.1:n.-24-354T>C
XM_024450635.1:c.-25+108T>C	XP_024306403.1:n.-25+108T>C
XR_001752445.2:n.481-354T>C
NM_144997.7:c.-24-354T>C MANE Select	NP_659434.2:n.-24-354T>C
NM_001353229.2:c.-24-354T>C	NP_001340158.1:n.-24-354T>C
NM_001353230.2:c.-25+108T>C	NP_001340159.1:n.-25+108T>C
NM_001353231.2:c.-25+108T>C	NP_001340160.1:n.-25+108T>C
NM_144606.7:c.-24-354T>C	NP_653207.1:n.-24-354T>C