Canonical Allele Identifier: CA2733543114
Gene: FLCN HGNC NCBI

Linked Data

dbSNP Id: rs2145037161

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17227859T>G , CM000679.2:g.17227859T>G GRCh38
NC_000017.10:g.17131173T>G , CM000679.1:g.17131173T>G GRCh37
NC_000017.9:g.17071898T>G NCBI36
NG_008001.2:g.14330A>C , LRG_325:g.14330A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000285071.9:c.249+30A>C MANE Select ENSP00000285071.4:n.249+30A>C
ENST00000285071.8:c.249+30A>C ENSP00000285071.4:n.249+30A>C
ENST00000389168.6:n.1589+30A>C
ENST00000389169.9:c.249+30A>C ENSP00000373821.5:n.249+30A>C
ENST00000389171.4:n.753+30A>C
ENST00000417064.1:c.90+30A>C ENSP00000410410.1:n.90+30A>C
ENST00000427497.3:c.148+131A>C ENSP00000394249.3:n.148+131A>C
NM_144606.5:c.249+30A>C NP_653207.1:n.249+30A>C
NM_144997.5:c.249+30A>C , LRG_325t1:c.249+30A>C NP_659434.2:n.249+30A>C
XM_011523714.1:c.249+30A>C XP_011522016.1:n.249+30A>C
XM_011523715.1:c.249+30A>C XP_011522017.1:n.249+30A>C
XM_011523716.1:c.249+30A>C XP_011522018.1:n.249+30A>C
XM_011523717.1:c.249+30A>C XP_011522019.1:n.249+30A>C
XM_011523718.1:c.249+30A>C XP_011522020.1:n.249+30A>C
XM_011523719.1:c.249+30A>C XP_011522021.1:n.249+30A>C
XM_011523720.1:c.249+30A>C XP_011522022.1:n.249+30A>C
XM_011523721.1:c.249+30A>C XP_011522023.1:n.249+30A>C
XR_934007.1:n.1589+30A>C
NM_001353229.1:c.249+30A>C NP_001340158.1:n.249+30A>C
NM_001353230.1:c.249+30A>C NP_001340159.1:n.249+30A>C
NM_001353231.1:c.249+30A>C NP_001340160.1:n.249+30A>C
NM_144606.6:c.249+30A>C NP_653207.1:n.249+30A>C
NM_144997.6:c.249+30A>C NP_659434.2:n.249+30A>C
XM_011523714.3:c.249+30A>C XP_011522016.1:n.249+30A>C
XM_011523718.3:c.249+30A>C XP_011522020.1:n.249+30A>C
XM_011523719.3:c.249+30A>C XP_011522021.1:n.249+30A>C
XM_011523721.3:c.249+30A>C XP_011522023.1:n.249+30A>C
XM_017024305.2:c.249+30A>C XP_016879794.1:n.249+30A>C
XM_017024308.1:c.249+30A>C XP_016879797.1:n.249+30A>C
XM_017024309.2:c.249+30A>C XP_016879798.1:n.249+30A>C
XM_024450635.1:c.249+30A>C XP_024306403.1:n.249+30A>C
XR_001752445.2:n.753+30A>C
NM_144997.7:c.249+30A>C MANE Select NP_659434.2:n.249+30A>C
NM_001353229.2:c.249+30A>C NP_001340158.1:n.249+30A>C
NM_001353230.2:c.249+30A>C NP_001340159.1:n.249+30A>C
NM_001353231.2:c.249+30A>C NP_001340160.1:n.249+30A>C
NM_144606.7:c.249+30A>C NP_653207.1:n.249+30A>C