Canonical Allele Identifier: CA191965

Linked Data

ClinVar Variation Id: 185442
ClinVar RCV Id: RCV000164868
dbSNP Id: rs786202175

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17217138G>A , CM000679.2:g.17217138G>A GRCh38
NC_000017.10:g.17120452G>A , CM000679.1:g.17120452G>A GRCh37
NC_000017.9:g.17061177G>A NCBI36
NG_008001.2:g.25051C>T , LRG_325:g.25051C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000285071.9:c.1107C>T (FLCN) MANE Select ENSP00000285071.4:p.Leu369=
ENST00000285071.8:c.1107C>T (FLCN) ENSP00000285071.4:p.Leu369=
ENST00000427497.3:c.229C>T ENSP00000394249.3:p.His77Tyr
ENST00000577591.1:n.130C>T (FLCN)
ENST00000578209.5:c.562-352G>A (MPRIP)
NM_144997.5:c.1107C>T , LRG_325t1:c.1107C>T (FLCN) NP_659434.2:p.Leu369=
XM_011523714.1:c.1161C>T (FLCN) XP_011522016.1:p.Leu387=
XM_011523715.1:c.1161C>T (FLCN) XP_011522017.1:p.Leu387=
XM_011523716.1:c.1161C>T (FLCN) XP_011522018.1:p.Leu387=
XM_011523717.1:c.1161C>T (FLCN) XP_011522019.1:p.Leu387=
XM_011523718.1:c.1161C>T (FLCN) XP_011522020.1:p.Leu387=
XM_011523719.1:c.1161C>T (FLCN) XP_011522021.1:p.Leu387=
XM_011523720.1:c.885C>T (FLCN) XP_011522022.1:p.Leu295=
XM_011523721.1:c.1161C>T (FLCN) XP_011522023.1:p.Leu387=
XR_934007.1:n.2501C>T (FLCN)
NM_001353229.1:c.1161C>T (FLCN) NP_001340158.1:p.Leu387=
NM_001353230.1:c.1107C>T (FLCN) NP_001340159.1:p.Leu369=
NM_001353231.1:c.1107C>T (FLCN) NP_001340160.1:p.Leu369=
NM_144997.6:c.1107C>T (FLCN) NP_659434.2:p.Leu369=
XM_011523714.3:c.1161C>T (FLCN) XP_011522016.1:p.Leu387=
XM_011523718.3:c.1161C>T (FLCN) XP_011522020.1:p.Leu387=
XM_011523719.3:c.1161C>T (FLCN) XP_011522021.1:p.Leu387=
XM_011523721.3:c.1161C>T (FLCN) XP_011522023.1:p.Leu387=
XM_017024305.2:c.1161C>T (FLCN) XP_016879794.1:p.Leu387=
XM_017024308.1:c.1107C>T (FLCN) XP_016879797.1:p.Leu369=
XM_017024309.2:c.885C>T (FLCN) XP_016879798.1:p.Leu295=
XM_024450635.1:c.1161C>T (FLCN) XP_024306403.1:p.Leu387=
XR_001752445.2:n.1665C>T (FLCN)
NM_144997.7:c.1107C>T (FLCN) MANE Select NP_659434.2:p.Leu369=
NM_001353229.2:c.1161C>T (FLCN) NP_001340158.1:p.Leu387=
NM_001353230.2:c.1107C>T (FLCN) NP_001340159.1:p.Leu369=
NM_001353231.2:c.1107C>T (FLCN) NP_001340160.1:p.Leu369=