Canonical Allele Identifier: CA2576185471

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17216322C>A , CM000679.2:g.17216322C>A GRCh38
NC_000017.10:g.17119636C>A , CM000679.1:g.17119636C>A GRCh37
NC_000017.9:g.17060361C>A NCBI36
NG_008001.2:g.25867G>T , LRG_325:g.25867G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000285071.9:c.1300+58G>T (FLCN) MANE Select ENSP00000285071.4:n.1300+58G>T
ENST00000285071.8:c.1300+58G>T (FLCN) ENSP00000285071.4:n.1300+58G>T
ENST00000427497.3:c.*134+58G>T ENSP00000394249.3:n.*134+58G>T
ENST00000578209.5:c.562-1168C>A (MPRIP)
NM_144997.5:c.1300+58G>T , LRG_325t1:c.1300+58G>T (FLCN) NP_659434.2:n.1300+58G>T
XM_011523714.1:c.1354+58G>T (FLCN) XP_011522016.1:n.1354+58G>T
XM_011523715.1:c.1354+58G>T (FLCN) XP_011522017.1:n.1354+58G>T
XM_011523716.1:c.1354+58G>T (FLCN) XP_011522018.1:n.1354+58G>T
XM_011523717.1:c.1354+58G>T (FLCN) XP_011522019.1:n.1354+58G>T
XM_011523718.1:c.1354+58G>T (FLCN) XP_011522020.1:n.1354+58G>T
XM_011523719.1:c.1354+58G>T (FLCN) XP_011522021.1:n.1354+58G>T
XM_011523720.1:c.1078+58G>T (FLCN) XP_011522022.1:n.1078+58G>T
XM_011523721.1:c.1354+58G>T (FLCN) XP_011522023.1:n.1354+58G>T
XR_934007.1:n.2570+747G>T (FLCN)
NM_001353229.1:c.1354+58G>T (FLCN) NP_001340158.1:n.1354+58G>T
NM_001353230.1:c.1300+58G>T (FLCN) NP_001340159.1:n.1300+58G>T
NM_001353231.1:c.1300+58G>T (FLCN) NP_001340160.1:n.1300+58G>T
NM_144997.6:c.1300+58G>T (FLCN) NP_659434.2:n.1300+58G>T
XM_011523714.3:c.1354+58G>T (FLCN) XP_011522016.1:n.1354+58G>T
XM_011523718.3:c.1354+58G>T (FLCN) XP_011522020.1:n.1354+58G>T
XM_011523719.3:c.1354+58G>T (FLCN) XP_011522021.1:n.1354+58G>T
XM_011523721.3:c.1354+58G>T (FLCN) XP_011522023.1:n.1354+58G>T
XM_017024305.2:c.1354+58G>T (FLCN) XP_016879794.1:n.1354+58G>T
XM_017024308.1:c.1300+58G>T (FLCN) XP_016879797.1:n.1300+58G>T
XM_017024309.2:c.1078+58G>T (FLCN) XP_016879798.1:n.1078+58G>T
XM_024450635.1:c.1354+58G>T (FLCN) XP_024306403.1:n.1354+58G>T
XR_001752445.2:n.1734+747G>T (FLCN)
NM_144997.7:c.1300+58G>T (FLCN) MANE Select NP_659434.2:n.1300+58G>T
NM_001353229.2:c.1354+58G>T (FLCN) NP_001340158.1:n.1354+58G>T
NM_001353230.2:c.1300+58G>T (FLCN) NP_001340159.1:n.1300+58G>T
NM_001353231.2:c.1300+58G>T (FLCN) NP_001340160.1:n.1300+58G>T