Canonical Allele Identifier: CA398532937
Gene: FLCN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17219131G>C , CM000679.2:g.17219131G>C GRCh38
NC_000017.10:g.17122445G>C , CM000679.1:g.17122445G>C GRCh37
NC_000017.9:g.17063170G>C NCBI36
NG_008001.2:g.23058C>G , LRG_325:g.23058C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000285071.9:c.950C>G MANE Select ENSP00000285071.4:p.Thr317Arg
ENST00000285071.8:c.950C>G ENSP00000285071.4:p.Thr317Arg
ENST00000427497.3:c.149-77C>G ENSP00000394249.3:n.149-77C>G
NM_144997.5:c.950C>G , LRG_325t1:c.950C>G NP_659434.2:p.Thr317Arg
XM_011523714.1:c.1004C>G XP_011522016.1:p.Thr335Arg
XM_011523715.1:c.1004C>G XP_011522017.1:p.Thr335Arg
XM_011523716.1:c.1004C>G XP_011522018.1:p.Thr335Arg
XM_011523717.1:c.1004C>G XP_011522019.1:p.Thr335Arg
XM_011523718.1:c.1004C>G XP_011522020.1:p.Thr335Arg
XM_011523719.1:c.1004C>G XP_011522021.1:p.Thr335Arg
XM_011523720.1:c.728C>G XP_011522022.1:p.Thr243Arg
XM_011523721.1:c.1004C>G XP_011522023.1:p.Thr335Arg
XR_934007.1:n.2344C>G
NM_001353229.1:c.1004C>G NP_001340158.1:p.Thr335Arg
NM_001353230.1:c.950C>G NP_001340159.1:p.Thr317Arg
NM_001353231.1:c.950C>G NP_001340160.1:p.Thr317Arg
NM_144997.6:c.950C>G NP_659434.2:p.Thr317Arg
XM_011523714.3:c.1004C>G XP_011522016.1:p.Thr335Arg
XM_011523718.3:c.1004C>G XP_011522020.1:p.Thr335Arg
XM_011523719.3:c.1004C>G XP_011522021.1:p.Thr335Arg
XM_011523721.3:c.1004C>G XP_011522023.1:p.Thr335Arg
XM_017024305.2:c.1004C>G XP_016879794.1:p.Thr335Arg
XM_017024308.1:c.950C>G XP_016879797.1:p.Thr317Arg
XM_017024309.2:c.728C>G XP_016879798.1:p.Thr243Arg
XM_024450635.1:c.1004C>G XP_024306403.1:p.Thr335Arg
XR_001752445.2:n.1508C>G
NM_144997.7:c.950C>G MANE Select NP_659434.2:p.Thr317Arg
NM_001353229.2:c.1004C>G NP_001340158.1:p.Thr335Arg
NM_001353230.2:c.950C>G NP_001340159.1:p.Thr317Arg
NM_001353231.2:c.950C>G NP_001340160.1:p.Thr317Arg