Canonical Allele Identifier: CA8416463
Community Standard Title: NM_144997.7(FLCN):c.257G>A (p.Arg86Gln)
Gene: FLCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17226315C>T , CM000679.2:g.17226315C>T GRCh38
NC_000017.10:g.17129629C>T , CM000679.1:g.17129629C>T GRCh37
NC_000017.9:g.17070354C>T NCBI36
NG_008001.2:g.15874G>A , LRG_325:g.15874G>A

Transcript Alleles

HGVS Amino-acid Change
NM_144997.7:c.257G>A MANE Select NP_659434.2:p.Arg86Gln
ENST00000285071.9:c.257G>A MANE Select ENSP00000285071.4:p.Arg86Gln
NM_001353229.1:c.257G>A NP_001340158.1:p.Arg86Gln
NM_001353229.2:c.257G>A NP_001340158.1:p.Arg86Gln
NM_001353230.1:c.257G>A NP_001340159.1:p.Arg86Gln
NM_001353230.2:c.257G>A NP_001340159.1:p.Arg86Gln
NM_001353231.1:c.257G>A NP_001340160.1:p.Arg86Gln
NM_001353231.2:c.257G>A NP_001340160.1:p.Arg86Gln
NM_144606.5:c.257G>A NP_653207.1:p.Arg86Gln
NM_144606.6:c.257G>A NP_653207.1:p.Arg86Gln
NM_144606.7:c.257G>A NP_653207.1:p.Arg86Gln
NM_144997.5:c.257G>A , LRG_325t1:c.257G>A NP_659434.2:p.Arg86Gln
NM_144997.6:c.257G>A NP_659434.2:p.Arg86Gln
ENST00000285071.8:c.257G>A ENSP00000285071.4:p.Arg86Gln
ENST00000389168.6:n.1597G>A
ENST00000389169.9:c.257G>A ENSP00000373821.5:p.Arg86Gln
ENST00000389171.4:n.761G>A
ENST00000417064.1:c.98G>A ENSP00000410410.1:p.Arg33Gln
ENST00000427497.3:c.148+1675G>A ENSP00000394249.3:n.148+1675G>A
XM_011523714.1:c.257G>A XP_011522016.1:p.Arg86Gln
XM_011523714.3:c.257G>A XP_011522016.1:p.Arg86Gln
XM_011523715.1:c.257G>A XP_011522017.1:p.Arg86Gln
XM_011523716.1:c.257G>A XP_011522018.1:p.Arg86Gln
XM_011523717.1:c.257G>A XP_011522019.1:p.Arg86Gln
XM_011523718.1:c.257G>A XP_011522020.1:p.Arg86Gln
XM_011523718.3:c.257G>A XP_011522020.1:p.Arg86Gln
XM_011523719.1:c.257G>A XP_011522021.1:p.Arg86Gln
XM_011523719.3:c.257G>A XP_011522021.1:p.Arg86Gln
XM_011523720.1:c.257G>A XP_011522022.1:p.Arg86Gln
XM_011523721.1:c.257G>A XP_011522023.1:p.Arg86Gln
XM_011523721.3:c.257G>A XP_011522023.1:p.Arg86Gln
XM_017024305.2:c.257G>A XP_016879794.1:p.Arg86Gln
XM_017024308.1:c.257G>A XP_016879797.1:p.Arg86Gln
XM_017024309.2:c.257G>A XP_016879798.1:p.Arg86Gln
XM_024450635.1:c.257G>A XP_024306403.1:p.Arg86Gln
XR_001752445.2:n.761G>A
XR_934007.1:n.1597G>A