Canonical Allele Identifier: CA3956297

Gene: FIG4

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109789643C>T , CM000668.2:g.109789643C>T	GRCh38
NC_000006.11:g.110110846C>T , CM000668.1:g.110110846C>T	GRCh37
NC_000006.10:g.110217539C>T	NCBI36
NG_007977.1:g.103423C>T , LRG_241:g.103423C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.2146C>T MANE Select	ENSP00000230124.4:p.Arg716Cys
ENST00000415980.2:c.652C>T	ENSP00000405660.2:p.Arg218Cys
ENST00000419951.2:n.494C>T
ENST00000674532.1:n.5342C>T
ENST00000674557.1:c.*1439C>T	ENSP00000501608.1:n.*1439C>T
ENST00000674569.1:c.*1265C>T	ENSP00000502769.1:n.*1265C>T
ENST00000674571.1:c.*1265C>T	ENSP00000501633.1:n.*1265C>T
ENST00000674575.1:c.*1265C>T	ENSP00000502276.1:n.*1265C>T
ENST00000674641.1:c.1801C>T	ENSP00000501609.1:p.Arg601Cys
ENST00000674644.1:c.1216C>T	ENSP00000502201.1:p.Arg406Cys
ENST00000674649.1:c.*1839C>T	ENSP00000501669.1:n.*1839C>T
ENST00000674657.1:c.*1578C>T	ENSP00000502314.1:n.*1578C>T
ENST00000674744.1:c.2140C>T	ENSP00000501661.1:p.Arg714Cys
ENST00000674778.1:c.*1364C>T	ENSP00000502742.1:n.*1364C>T
ENST00000674783.1:c.*1061C>T	ENSP00000502755.1:n.*1061C>T
ENST00000674884.1:c.2164C>T	ENSP00000502668.1:p.Arg722Cys
ENST00000674930.1:c.*1271C>T	ENSP00000502657.1:n.*1271C>T
ENST00000674933.1:c.1915C>T	ENSP00000502376.1:p.Arg639Cys
ENST00000674956.1:c.*1360C>T	ENSP00000501904.1:n.*1360C>T
ENST00000675004.1:c.*2098C>T	ENSP00000501868.1:n.*2098C>T
ENST00000675009.1:c.*1530C>T	ENSP00000502098.1:n.*1530C>T
ENST00000675096.1:c.1939C>T	ENSP00000502116.1:p.Arg647Cys
ENST00000675122.1:c.*253C>T	ENSP00000501810.1:n.*253C>T
ENST00000675153.1:c.*863C>T	ENSP00000501682.1:n.*863C>T
ENST00000675254.1:n.897C>T
ENST00000675272.1:n.6444C>T
ENST00000675284.1:c.2146C>T	ENSP00000502758.1:p.Arg716Cys
ENST00000675301.1:n.803C>T
ENST00000675311.1:c.*1348C>T	ENSP00000501961.1:n.*1348C>T
ENST00000675426.1:c.*1214C>T	ENSP00000501819.1:n.*1214C>T
ENST00000675523.1:c.1915C>T	ENSP00000502384.1:p.Arg639Cys
ENST00000675552.1:c.*4409C>T	ENSP00000502197.1:n.*4409C>T
ENST00000675714.1:c.2146C>T	ENSP00000502561.1:p.Arg716Cys
ENST00000675726.1:c.2146C>T	ENSP00000502452.1:p.Arg716Cys
ENST00000675772.1:c.2146C>T	ENSP00000501678.1:p.Arg716Cys
ENST00000675831.1:c.1753C>T	ENSP00000502382.1:p.Arg585Cys
ENST00000675849.1:n.1768C>T
ENST00000675879.1:c.991C>T
ENST00000675887.1:c.*1749C>T	ENSP00000502123.1:n.*1749C>T
ENST00000675954.1:n.3479C>T
ENST00000675991.1:c.*1265C>T	ENSP00000502162.1:n.*1265C>T
ENST00000675994.1:c.*1285C>T	ENSP00000502419.1:n.*1285C>T
ENST00000676021.1:c.*724C>T	ENSP00000502746.1:n.*724C>T
ENST00000676037.1:c.*73C>T	ENSP00000502181.1:n.*73C>T
ENST00000676136.1:n.4793C>T
ENST00000676442.1:c.2017C>T	ENSP00000502595.1:p.Arg673Cys
ENST00000230124.7:c.2146C>T	ENSP00000230124.3:p.Arg716Cys
ENST00000419951.1:c.67C>T	ENSP00000396566.1:p.Arg23Cys
NM_014845.5:c.2146C>T , LRG_241t1:c.2146C>T	NP_055660.1:p.Arg716Cys
XM_011536281.1:c.2083C>T	XP_011534583.1:p.Arg695Cys
XM_011536281.3:c.2083C>T	XP_011534583.1:p.Arg695Cys
XM_017011592.1:c.1597C>T	XP_016867081.1:p.Arg533Cys
XM_017011593.2:c.1216C>T	XP_016867082.1:p.Arg406Cys
NM_014845.6:c.2146C>T MANE Select	NP_055660.1:p.Arg716Cys