Canonical Allele Identifier: CA3955915

Gene: FIG4

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109741476A>G , CM000668.2:g.109741476A>G	GRCh38
NC_000006.11:g.110062679A>G , CM000668.1:g.110062679A>G	GRCh37
NC_000006.10:g.110169372A>G	NCBI36
NG_007977.1:g.55256A>G , LRG_241:g.55256A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.808A>G MANE Select	ENSP00000230124.4:p.Thr270Ala
ENST00000368941.2:c.647-1634A>G	ENSP00000357937.2:n.647-1634A>G
ENST00000415980.2:c.-223-20615A>G	ENSP00000405660.2:n.-223-20615A>G
ENST00000454215.6:c.784A>G	ENSP00000412156.2:p.Thr262Ala
ENST00000674532.1:n.4004A>G
ENST00000674557.1:c.*240A>G	ENSP00000501608.1:n.*240A>G
ENST00000674569.1:c.647-1634A>G	ENSP00000502769.1:n.647-1634A>G
ENST00000674571.1:c.647-1634A>G	ENSP00000501633.1:n.647-1634A>G
ENST00000674575.1:c.641-1634A>G	ENSP00000502276.1:n.641-1634A>G
ENST00000674641.1:c.463A>G	ENSP00000501609.1:p.Thr155Ala
ENST00000674644.1:c.-54-1634A>G	ENSP00000502201.1:n.-54-1634A>G
ENST00000674649.1:c.*501A>G	ENSP00000501669.1:n.*501A>G
ENST00000674657.1:c.*240A>G	ENSP00000502314.1:n.*240A>G
ENST00000674744.1:c.802A>G	ENSP00000501661.1:p.Thr268Ala
ENST00000674778.1:c.647-1634A>G	ENSP00000502742.1:n.647-1634A>G
ENST00000674783.1:c.808A>G	ENSP00000502755.1:p.Thr270Ala
ENST00000674830.1:n.779A>G
ENST00000674884.1:c.826A>G	ENSP00000502668.1:p.Thr276Ala
ENST00000674930.1:c.*165-2199A>G	ENSP00000502657.1:n.*165-2199A>G
ENST00000674933.1:c.577A>G	ENSP00000502376.1:p.Thr193Ala
ENST00000674956.1:c.647-1634A>G	ENSP00000501904.1:n.647-1634A>G
ENST00000675004.1:c.*760A>G	ENSP00000501868.1:n.*760A>G
ENST00000675009.1:c.*326A>G	ENSP00000502098.1:n.*326A>G
ENST00000675096.1:c.808A>G	ENSP00000502116.1:p.Thr270Ala
ENST00000675122.1:c.808A>G	ENSP00000501810.1:p.Thr270Ala
ENST00000675153.1:c.808A>G	ENSP00000501682.1:p.Thr270Ala
ENST00000675272.1:n.4704A>G
ENST00000675284.1:c.808A>G	ENSP00000502758.1:p.Thr270Ala
ENST00000675311.1:c.*79-1634A>G	ENSP00000501961.1:n.*79-1634A>G
ENST00000675426.1:c.*79-1634A>G	ENSP00000501819.1:n.*79-1634A>G
ENST00000675523.1:c.577A>G	ENSP00000502384.1:p.Thr193Ala
ENST00000675552.1:c.647-1634A>G	ENSP00000502197.1:n.647-1634A>G
ENST00000675681.1:c.808A>G	ENSP00000502705.1:p.Thr270Ala
ENST00000675714.1:c.808A>G	ENSP00000502561.1:p.Thr270Ala
ENST00000675726.1:c.808A>G	ENSP00000502452.1:p.Thr270Ala
ENST00000675772.1:c.808A>G	ENSP00000501678.1:p.Thr270Ala
ENST00000675831.1:c.647-2199A>G	ENSP00000502382.1:n.647-2199A>G
ENST00000675847.1:n.932A>G
ENST00000675887.1:c.*411A>G	ENSP00000502123.1:n.*411A>G
ENST00000675973.1:c.679A>G	ENSP00000502407.1:p.Thr227Ala
ENST00000675991.1:c.647-1634A>G	ENSP00000502162.1:n.647-1634A>G
ENST00000675994.1:c.647-1634A>G	ENSP00000502419.1:n.647-1634A>G
ENST00000676021.1:c.808A>G	ENSP00000502746.1:p.Thr270Ala
ENST00000676037.1:c.808A>G	ENSP00000502181.1:p.Thr270Ala
ENST00000676136.1:n.948A>G
ENST00000676435.1:c.808A>G	ENSP00000502614.1:p.Thr270Ala
ENST00000676442.1:c.679A>G	ENSP00000502595.1:p.Thr227Ala
ENST00000230124.7:c.808A>G	ENSP00000230124.3:p.Thr270Ala
ENST00000368941.1:c.416-1634A>G	ENSP00000357937.1:n.416-1634A>G
NM_014845.5:c.808A>G , LRG_241t1:c.808A>G	NP_055660.1:p.Thr270Ala
XM_011536281.1:c.745A>G	XP_011534583.1:p.Thr249Ala
XM_011536281.3:c.745A>G	XP_011534583.1:p.Thr249Ala
XM_017011591.2:c.808A>G	XP_016867080.1:p.Thr270Ala
XM_017011592.1:c.259A>G	XP_016867081.1:p.Thr87Ala
XM_017011593.2:c.-54-1634A>G	XP_016867082.1:n.-54-1634A>G
NM_014845.6:c.808A>G MANE Select	NP_055660.1:p.Thr270Ala