Canonical Allele Identifier: CA3956042

Gene: FIG4

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109762167C>T , CM000668.2:g.109762167C>T	GRCh38
NC_000006.11:g.110083370C>T , CM000668.1:g.110083370C>T	GRCh37
NC_000006.10:g.110190063C>T	NCBI36
NG_007977.1:g.75947C>T , LRG_241:g.75947C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.1348C>T MANE Select	ENSP00000230124.4:p.Arg450Cys
ENST00000415980.2:c.-147C>T	ENSP00000405660.2:n.-147C>T
ENST00000674532.1:n.4544C>T
ENST00000674557.1:c.*780C>T	ENSP00000501608.1:n.*780C>T
ENST00000674569.1:c.*467C>T	ENSP00000502769.1:n.*467C>T
ENST00000674571.1:c.*467C>T	ENSP00000501633.1:n.*467C>T
ENST00000674575.1:c.*467C>T	ENSP00000502276.1:n.*467C>T
ENST00000674641.1:c.1003C>T	ENSP00000501609.1:p.Arg335Cys
ENST00000674644.1:c.418C>T	ENSP00000502201.1:p.Arg140Cys
ENST00000674649.1:c.*1041C>T	ENSP00000501669.1:n.*1041C>T
ENST00000674657.1:c.*780C>T	ENSP00000502314.1:n.*780C>T
ENST00000674744.1:c.1342C>T	ENSP00000501661.1:p.Arg448Cys
ENST00000674778.1:c.*467C>T	ENSP00000502742.1:n.*467C>T
ENST00000674783.1:c.*263C>T	ENSP00000502755.1:n.*263C>T
ENST00000674830.1:n.1319C>T
ENST00000674884.1:c.1366C>T	ENSP00000502668.1:p.Arg456Cys
ENST00000674930.1:c.*473C>T	ENSP00000502657.1:n.*473C>T
ENST00000674933.1:c.1117C>T	ENSP00000502376.1:p.Arg373Cys
ENST00000674956.1:c.*562C>T	ENSP00000501904.1:n.*562C>T
ENST00000675004.1:c.*1300C>T	ENSP00000501868.1:n.*1300C>T
ENST00000675009.1:c.*732C>T	ENSP00000502098.1:n.*732C>T
ENST00000675096.1:c.1348C>T	ENSP00000502116.1:p.Arg450Cys
ENST00000675122.1:c.1348C>T	ENSP00000501810.1:p.Arg450Cys
ENST00000675153.1:c.*65C>T	ENSP00000501682.1:n.*65C>T
ENST00000675272.1:n.5646C>T
ENST00000675284.1:c.1348C>T	ENSP00000502758.1:p.Arg450Cys
ENST00000675311.1:c.*550C>T	ENSP00000501961.1:n.*550C>T
ENST00000675426.1:c.*416C>T	ENSP00000501819.1:n.*416C>T
ENST00000675523.1:c.1117C>T	ENSP00000502384.1:p.Arg373Cys
ENST00000675552.1:c.*467C>T	ENSP00000502197.1:n.*467C>T
ENST00000675681.1:c.1348C>T	ENSP00000502705.1:p.Arg450Cys
ENST00000675714.1:c.1348C>T	ENSP00000502561.1:p.Arg450Cys
ENST00000675726.1:c.1348C>T	ENSP00000502452.1:p.Arg450Cys
ENST00000675772.1:c.1348C>T	ENSP00000501678.1:p.Arg450Cys
ENST00000675831.1:c.955C>T	ENSP00000502382.1:p.Arg319Cys
ENST00000675847.1:n.1472C>T
ENST00000675879.1:c.77C>T
ENST00000675887.1:c.*951C>T	ENSP00000502123.1:n.*951C>T
ENST00000675973.1:c.1219C>T	ENSP00000502407.1:p.Arg407Cys
ENST00000675991.1:c.*467C>T	ENSP00000502162.1:n.*467C>T
ENST00000675994.1:c.*467C>T	ENSP00000502419.1:n.*467C>T
ENST00000676021.1:c.*65C>T	ENSP00000502746.1:n.*65C>T
ENST00000676037.1:c.1348C>T	ENSP00000502181.1:p.Arg450Cys
ENST00000676136.1:n.1488C>T
ENST00000676442.1:c.1219C>T	ENSP00000502595.1:p.Arg407Cys
ENST00000230124.7:c.1348C>T	ENSP00000230124.3:p.Arg450Cys
NM_014845.5:c.1348C>T , LRG_241t1:c.1348C>T	NP_055660.1:p.Arg450Cys
XM_011536281.1:c.1285C>T	XP_011534583.1:p.Arg429Cys
XM_011536281.3:c.1285C>T	XP_011534583.1:p.Arg429Cys
XM_017011591.2:c.1348C>T	XP_016867080.1:p.Arg450Cys
XM_017011592.1:c.799C>T	XP_016867081.1:p.Arg267Cys
XM_017011593.2:c.418C>T	XP_016867082.1:p.Arg140Cys
NM_014845.6:c.1348C>T MANE Select	NP_055660.1:p.Arg450Cys