Canonical Allele Identifier: CA398532919
Gene: FLCN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17219120C>G , CM000679.2:g.17219120C>G GRCh38
NC_000017.10:g.17122434C>G , CM000679.1:g.17122434C>G GRCh37
NC_000017.9:g.17063159C>G NCBI36
NG_008001.2:g.23069G>C , LRG_325:g.23069G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000285071.9:c.961G>C MANE Select ENSP00000285071.4:p.Glu321Gln
ENST00000285071.8:c.961G>C ENSP00000285071.4:p.Glu321Gln
ENST00000427497.3:c.149-66G>C ENSP00000394249.3:n.149-66G>C
NM_144997.5:c.961G>C , LRG_325t1:c.961G>C NP_659434.2:p.Glu321Gln
XM_011523714.1:c.1015G>C XP_011522016.1:p.Glu339Gln
XM_011523715.1:c.1015G>C XP_011522017.1:p.Glu339Gln
XM_011523716.1:c.1015G>C XP_011522018.1:p.Glu339Gln
XM_011523717.1:c.1015G>C XP_011522019.1:p.Glu339Gln
XM_011523718.1:c.1015G>C XP_011522020.1:p.Glu339Gln
XM_011523719.1:c.1015G>C XP_011522021.1:p.Glu339Gln
XM_011523720.1:c.739G>C XP_011522022.1:p.Glu247Gln
XM_011523721.1:c.1015G>C XP_011522023.1:p.Glu339Gln
XR_934007.1:n.2355G>C
NM_001353229.1:c.1015G>C NP_001340158.1:p.Glu339Gln
NM_001353230.1:c.961G>C NP_001340159.1:p.Glu321Gln
NM_001353231.1:c.961G>C NP_001340160.1:p.Glu321Gln
NM_144997.6:c.961G>C NP_659434.2:p.Glu321Gln
XM_011523714.3:c.1015G>C XP_011522016.1:p.Glu339Gln
XM_011523718.3:c.1015G>C XP_011522020.1:p.Glu339Gln
XM_011523719.3:c.1015G>C XP_011522021.1:p.Glu339Gln
XM_011523721.3:c.1015G>C XP_011522023.1:p.Glu339Gln
XM_017024305.2:c.1015G>C XP_016879794.1:p.Glu339Gln
XM_017024308.1:c.961G>C XP_016879797.1:p.Glu321Gln
XM_017024309.2:c.739G>C XP_016879798.1:p.Glu247Gln
XM_024450635.1:c.1015G>C XP_024306403.1:p.Glu339Gln
XR_001752445.2:n.1519G>C
NM_144997.7:c.961G>C MANE Select NP_659434.2:p.Glu321Gln
NM_001353229.2:c.1015G>C NP_001340158.1:p.Glu339Gln
NM_001353230.2:c.961G>C NP_001340159.1:p.Glu321Gln
NM_001353231.2:c.961G>C NP_001340160.1:p.Glu321Gln