Canonical Allele Identifier: CA398529769

Linked Data

ClinVar Variation Id: 1420988
ClinVar RCV Id: RCV001916705
dbSNP Id: rs2144805963

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17213667C>A , CM000679.2:g.17213667C>A GRCh38
NC_000017.10:g.17116981C>A , CM000679.1:g.17116981C>A GRCh37
NC_000017.9:g.17057706C>A NCBI36
NG_008001.2:g.28522G>T , LRG_325:g.28522G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000285071.9:c.1728G>T (FLCN) MANE Select ENSP00000285071.4:p.Glu576Asp
ENST00000285071.8:c.1728G>T (FLCN) ENSP00000285071.4:p.Glu576Asp
ENST00000427497.3:c.*372+1318G>T ENSP00000394249.3:n.*372+1318G>T
ENST00000578209.5:c.562-3823C>A (MPRIP)
NM_144997.5:c.1728G>T , LRG_325t1:c.1728G>T (FLCN) NP_659434.2:p.Glu576Asp
XM_011523714.1:c.1782G>T (FLCN) XP_011522016.1:p.Glu594Asp
XM_011523715.1:c.1782G>T (FLCN) XP_011522017.1:p.Glu594Asp
XM_011523716.1:c.1782G>T (FLCN) XP_011522018.1:p.Glu594Asp
XM_011523717.1:c.1782G>T (FLCN) XP_011522019.1:p.Glu594Asp
XM_011523718.1:c.1782G>T (FLCN) XP_011522020.1:p.Glu594Asp
XM_011523719.1:c.1592+1318G>T (FLCN) XP_011522021.1:n.1592+1318G>T
XM_011523720.1:c.1506G>T (FLCN) XP_011522022.1:p.Glu502Asp
XM_011523721.1:c.1782G>T (FLCN) XP_011522023.1:p.Glu594Asp
NM_001353229.1:c.1782G>T (FLCN) NP_001340158.1:p.Glu594Asp
NM_001353230.1:c.1728G>T (FLCN) NP_001340159.1:p.Glu576Asp
NM_001353231.1:c.1728G>T (FLCN) NP_001340160.1:p.Glu576Asp
NM_144997.6:c.1728G>T (FLCN) NP_659434.2:p.Glu576Asp
XM_011523714.3:c.1782G>T (FLCN) XP_011522016.1:p.Glu594Asp
XM_011523718.3:c.1782G>T (FLCN) XP_011522020.1:p.Glu594Asp
XM_011523719.3:c.1592+1318G>T (FLCN) XP_011522021.1:n.1592+1318G>T
XM_011523721.3:c.1782G>T (FLCN) XP_011522023.1:p.Glu594Asp
XM_017024305.2:c.1782G>T (FLCN) XP_016879794.1:p.Glu594Asp
XM_017024308.1:c.1728G>T (FLCN) XP_016879797.1:p.Glu576Asp
XM_017024309.2:c.1506G>T (FLCN) XP_016879798.1:p.Glu502Asp
XM_024450635.1:c.1782G>T (FLCN) XP_024306403.1:p.Glu594Asp
XR_001752445.2:n.2162G>T (FLCN)
NM_144997.7:c.1728G>T (FLCN) MANE Select NP_659434.2:p.Glu576Asp
NM_001353229.2:c.1782G>T (FLCN) NP_001340158.1:p.Glu594Asp
NM_001353230.2:c.1728G>T (FLCN) NP_001340159.1:p.Glu576Asp
NM_001353231.2:c.1728G>T (FLCN) NP_001340160.1:p.Glu576Asp