Canonical Allele Identifier: CA398533989
Community Standard Title: NM_144997.7(FLCN):c.694C>G (p.Gln232Glu)
Gene: FLCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17222586G>C , CM000679.2:g.17222586G>C GRCh38
NC_000017.10:g.17125900G>C , CM000679.1:g.17125900G>C GRCh37
NC_000017.9:g.17066625G>C NCBI36
NG_008001.2:g.19603C>G , LRG_325:g.19603C>G

Transcript Alleles

HGVS Amino-acid Change
NM_144997.7:c.694C>G MANE Select NP_659434.2:p.Gln232Glu
ENST00000285071.9:c.694C>G MANE Select ENSP00000285071.4:p.Gln232Glu
NM_001353229.1:c.748C>G NP_001340158.1:p.Gln250Glu
NM_001353229.2:c.748C>G NP_001340158.1:p.Gln250Glu
NM_001353230.1:c.694C>G NP_001340159.1:p.Gln232Glu
NM_001353230.2:c.694C>G NP_001340159.1:p.Gln232Glu
NM_001353231.1:c.694C>G NP_001340160.1:p.Gln232Glu
NM_001353231.2:c.694C>G NP_001340160.1:p.Gln232Glu
NM_144606.5:c.694C>G NP_653207.1:p.Gln232Glu
NM_144606.6:c.694C>G NP_653207.1:p.Gln232Glu
NM_144606.7:c.694C>G NP_653207.1:p.Gln232Glu
NM_144997.5:c.694C>G , LRG_325t1:c.694C>G NP_659434.2:p.Gln232Glu
NM_144997.6:c.694C>G NP_659434.2:p.Gln232Glu
ENST00000285071.8:c.694C>G ENSP00000285071.4:p.Gln232Glu
ENST00000389169.9:c.694C>G ENSP00000373821.5:p.Gln232Glu
ENST00000427497.3:c.149-3532C>G ENSP00000394249.3:n.149-3532C>G
ENST00000466317.1:n.537C>G
ENST00000480316.1:n.660C>G
XM_011523714.1:c.748C>G XP_011522016.1:p.Gln250Glu
XM_011523714.3:c.748C>G XP_011522016.1:p.Gln250Glu
XM_011523715.1:c.748C>G XP_011522017.1:p.Gln250Glu
XM_011523716.1:c.748C>G XP_011522018.1:p.Gln250Glu
XM_011523717.1:c.748C>G XP_011522019.1:p.Gln250Glu
XM_011523718.1:c.748C>G XP_011522020.1:p.Gln250Glu
XM_011523718.3:c.748C>G XP_011522020.1:p.Gln250Glu
XM_011523719.1:c.748C>G XP_011522021.1:p.Gln250Glu
XM_011523719.3:c.748C>G XP_011522021.1:p.Gln250Glu
XM_011523720.1:c.472C>G XP_011522022.1:p.Gln158Glu
XM_011523721.1:c.748C>G XP_011522023.1:p.Gln250Glu
XM_011523721.3:c.748C>G XP_011522023.1:p.Gln250Glu
XM_017024305.2:c.748C>G XP_016879794.1:p.Gln250Glu
XM_017024308.1:c.694C>G XP_016879797.1:p.Gln232Glu
XM_017024309.2:c.472C>G XP_016879798.1:p.Gln158Glu
XM_024450635.1:c.748C>G XP_024306403.1:p.Gln250Glu
XR_001752445.2:n.1252C>G
XR_934007.1:n.2088C>G