Canonical Allele Identifier: CA2636351085

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17216873C>T , CM000679.2:g.17216873C>T GRCh38
NC_000017.10:g.17120187C>T , CM000679.1:g.17120187C>T GRCh37
NC_000017.9:g.17060912C>T NCBI36
NG_008001.2:g.25316G>A , LRG_325:g.25316G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000285071.9:c.1176+196G>A (FLCN) MANE Select ENSP00000285071.4:n.1176+196G>A
ENST00000285071.8:c.1176+196G>A (FLCN) ENSP00000285071.4:n.1176+196G>A
ENST00000427497.3:c.*10+196G>A ENSP00000394249.3:n.*10+196G>A
ENST00000578209.5:c.562-617C>T (MPRIP)
NM_144997.5:c.1176+196G>A , LRG_325t1:c.1176+196G>A (FLCN) NP_659434.2:n.1176+196G>A
XM_011523714.1:c.1230+196G>A (FLCN) XP_011522016.1:n.1230+196G>A
XM_011523715.1:c.1230+196G>A (FLCN) XP_011522017.1:n.1230+196G>A
XM_011523716.1:c.1230+196G>A (FLCN) XP_011522018.1:n.1230+196G>A
XM_011523717.1:c.1230+196G>A (FLCN) XP_011522019.1:n.1230+196G>A
XM_011523718.1:c.1230+196G>A (FLCN) XP_011522020.1:n.1230+196G>A
XM_011523719.1:c.1230+196G>A (FLCN) XP_011522021.1:n.1230+196G>A
XM_011523720.1:c.954+196G>A (FLCN) XP_011522022.1:n.954+196G>A
XM_011523721.1:c.1230+196G>A (FLCN) XP_011522023.1:n.1230+196G>A
XR_934007.1:n.2570+196G>A (FLCN)
NM_001353229.1:c.1230+196G>A (FLCN) NP_001340158.1:n.1230+196G>A
NM_001353230.1:c.1176+196G>A (FLCN) NP_001340159.1:n.1176+196G>A
NM_001353231.1:c.1176+196G>A (FLCN) NP_001340160.1:n.1176+196G>A
NM_144997.6:c.1176+196G>A (FLCN) NP_659434.2:n.1176+196G>A
XM_011523714.3:c.1230+196G>A (FLCN) XP_011522016.1:n.1230+196G>A
XM_011523718.3:c.1230+196G>A (FLCN) XP_011522020.1:n.1230+196G>A
XM_011523719.3:c.1230+196G>A (FLCN) XP_011522021.1:n.1230+196G>A
XM_011523721.3:c.1230+196G>A (FLCN) XP_011522023.1:n.1230+196G>A
XM_017024305.2:c.1230+196G>A (FLCN) XP_016879794.1:n.1230+196G>A
XM_017024308.1:c.1176+196G>A (FLCN) XP_016879797.1:n.1176+196G>A
XM_017024309.2:c.954+196G>A (FLCN) XP_016879798.1:n.954+196G>A
XM_024450635.1:c.1230+196G>A (FLCN) XP_024306403.1:n.1230+196G>A
XR_001752445.2:n.1734+196G>A (FLCN)
NM_144997.7:c.1176+196G>A (FLCN) MANE Select NP_659434.2:n.1176+196G>A
NM_001353229.2:c.1230+196G>A (FLCN) NP_001340158.1:n.1230+196G>A
NM_001353230.2:c.1176+196G>A (FLCN) NP_001340159.1:n.1176+196G>A
NM_001353231.2:c.1176+196G>A (FLCN) NP_001340160.1:n.1176+196G>A