Canonical Allele Identifier: CA398532375

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17217164A>G , CM000679.2:g.17217164A>G GRCh38
NC_000017.10:g.17120478A>G , CM000679.1:g.17120478A>G GRCh37
NC_000017.9:g.17061203A>G NCBI36
NG_008001.2:g.25025T>C , LRG_325:g.25025T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000285071.9:c.1081T>C (FLCN) MANE Select ENSP00000285071.4:p.Phe361Leu
ENST00000285071.8:c.1081T>C (FLCN) ENSP00000285071.4:p.Phe361Leu
ENST00000427497.3:c.203T>C ENSP00000394249.3:p.Phe68Ser
ENST00000577591.1:n.104T>C (FLCN)
ENST00000578209.5:c.562-326A>G (MPRIP)
NM_144997.5:c.1081T>C , LRG_325t1:c.1081T>C (FLCN) NP_659434.2:p.Phe361Leu
XM_011523714.1:c.1135T>C (FLCN) XP_011522016.1:p.Phe379Leu
XM_011523715.1:c.1135T>C (FLCN) XP_011522017.1:p.Phe379Leu
XM_011523716.1:c.1135T>C (FLCN) XP_011522018.1:p.Phe379Leu
XM_011523717.1:c.1135T>C (FLCN) XP_011522019.1:p.Phe379Leu
XM_011523718.1:c.1135T>C (FLCN) XP_011522020.1:p.Phe379Leu
XM_011523719.1:c.1135T>C (FLCN) XP_011522021.1:p.Phe379Leu
XM_011523720.1:c.859T>C (FLCN) XP_011522022.1:p.Phe287Leu
XM_011523721.1:c.1135T>C (FLCN) XP_011522023.1:p.Phe379Leu
XR_934007.1:n.2475T>C (FLCN)
NM_001353229.1:c.1135T>C (FLCN) NP_001340158.1:p.Phe379Leu
NM_001353230.1:c.1081T>C (FLCN) NP_001340159.1:p.Phe361Leu
NM_001353231.1:c.1081T>C (FLCN) NP_001340160.1:p.Phe361Leu
NM_144997.6:c.1081T>C (FLCN) NP_659434.2:p.Phe361Leu
XM_011523714.3:c.1135T>C (FLCN) XP_011522016.1:p.Phe379Leu
XM_011523718.3:c.1135T>C (FLCN) XP_011522020.1:p.Phe379Leu
XM_011523719.3:c.1135T>C (FLCN) XP_011522021.1:p.Phe379Leu
XM_011523721.3:c.1135T>C (FLCN) XP_011522023.1:p.Phe379Leu
XM_017024305.2:c.1135T>C (FLCN) XP_016879794.1:p.Phe379Leu
XM_017024308.1:c.1081T>C (FLCN) XP_016879797.1:p.Phe361Leu
XM_017024309.2:c.859T>C (FLCN) XP_016879798.1:p.Phe287Leu
XM_024450635.1:c.1135T>C (FLCN) XP_024306403.1:p.Phe379Leu
XR_001752445.2:n.1639T>C (FLCN)
NM_144997.7:c.1081T>C (FLCN) MANE Select NP_659434.2:p.Phe361Leu
NM_001353229.2:c.1135T>C (FLCN) NP_001340158.1:p.Phe379Leu
NM_001353230.2:c.1081T>C (FLCN) NP_001340159.1:p.Phe361Leu
NM_001353231.2:c.1081T>C (FLCN) NP_001340160.1:p.Phe361Leu