Canonical Allele Identifier: CA2679971366

Gene: FIG4

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109785114C>A , CM000668.2:g.109785114C>A	GRCh38
NC_000006.11:g.110106317C>A , CM000668.1:g.110106317C>A	GRCh37
NC_000006.10:g.110213010C>A	NCBI36
NG_007977.1:g.98894C>A , LRG_241:g.98894C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014845.6:c.1948+86C>A MANE Select	NP_055660.1:n.1948+86C>A
ENST00000230124.8:c.1948+86C>A MANE Select	ENSP00000230124.4:n.1948+86C>A
NM_014845.5:c.1948+86C>A , LRG_241t1:c.1948+86C>A	NP_055660.1:n.1948+86C>A
ENST00000230124.7:c.1948+86C>A	ENSP00000230124.3:n.1948+86C>A
ENST00000415980.1:c.365+86C>A
ENST00000415980.2:c.454+86C>A	ENSP00000405660.2:n.454+86C>A
ENST00000674532.1:n.5144+86C>A
ENST00000674557.1:c.*1241+86C>A	ENSP00000501608.1:n.*1241+86C>A
ENST00000674569.1:c.*1067+86C>A	ENSP00000502769.1:n.*1067+86C>A
ENST00000674571.1:c.*1067+86C>A	ENSP00000501633.1:n.*1067+86C>A
ENST00000674575.1:c.*1067+86C>A	ENSP00000502276.1:n.*1067+86C>A
ENST00000674641.1:c.1603+86C>A	ENSP00000501609.1:n.1603+86C>A
ENST00000674644.1:c.1018+86C>A	ENSP00000502201.1:n.1018+86C>A
ENST00000674649.1:c.*1641+86C>A	ENSP00000501669.1:n.*1641+86C>A
ENST00000674657.1:c.*1380+86C>A	ENSP00000502314.1:n.*1380+86C>A
ENST00000674744.1:c.1942+86C>A	ENSP00000501661.1:n.1942+86C>A
ENST00000674778.1:c.*1067+86C>A	ENSP00000502742.1:n.*1067+86C>A
ENST00000674783.1:c.*863+86C>A	ENSP00000502755.1:n.*863+86C>A
ENST00000674884.1:c.1966+86C>A	ENSP00000502668.1:n.1966+86C>A
ENST00000674930.1:c.*1073+86C>A	ENSP00000502657.1:n.*1073+86C>A
ENST00000674933.1:c.1717+86C>A	ENSP00000502376.1:n.1717+86C>A
ENST00000674956.1:c.*1162+86C>A	ENSP00000501904.1:n.*1162+86C>A
ENST00000675004.1:c.*1900+86C>A	ENSP00000501868.1:n.*1900+86C>A
ENST00000675009.1:c.*1332+86C>A	ENSP00000502098.1:n.*1332+86C>A
ENST00000675096.1:c.1890-4480C>A	ENSP00000502116.1:n.1890-4480C>A
ENST00000675122.1:c.1948+86C>A	ENSP00000501810.1:n.1948+86C>A
ENST00000675153.1:c.*665+86C>A	ENSP00000501682.1:n.*665+86C>A
ENST00000675272.1:n.6246+86C>A
ENST00000675284.1:c.1948+86C>A	ENSP00000502758.1:n.1948+86C>A
ENST00000675301.1:n.605+86C>A
ENST00000675311.1:c.*1150+86C>A	ENSP00000501961.1:n.*1150+86C>A
ENST00000675426.1:c.*1016+86C>A	ENSP00000501819.1:n.*1016+86C>A
ENST00000675523.1:c.1717+86C>A	ENSP00000502384.1:n.1717+86C>A
ENST00000675552.1:c.*1067+86C>A	ENSP00000502197.1:n.*1067+86C>A
ENST00000675714.1:c.1948+86C>A	ENSP00000502561.1:n.1948+86C>A
ENST00000675726.1:c.1948+86C>A	ENSP00000502452.1:n.1948+86C>A
ENST00000675772.1:c.1948+86C>A	ENSP00000501678.1:n.1948+86C>A
ENST00000675831.1:c.1555+86C>A	ENSP00000502382.1:n.1555+86C>A
ENST00000675849.1:n.1570+86C>A
ENST00000675879.1:c.677+86C>A
ENST00000675887.1:c.*1551+86C>A	ENSP00000502123.1:n.*1551+86C>A
ENST00000675954.1:n.3281+86C>A
ENST00000675991.1:c.*1067+86C>A	ENSP00000502162.1:n.*1067+86C>A
ENST00000675994.1:c.*928+86C>A	ENSP00000502419.1:n.*928+86C>A
ENST00000676021.1:c.*526+86C>A	ENSP00000502746.1:n.*526+86C>A
ENST00000676037.1:c.1948+86C>A	ENSP00000502181.1:n.1948+86C>A
ENST00000676136.1:n.2088+86C>A
ENST00000676442.1:c.1819+86C>A	ENSP00000502595.1:n.1819+86C>A
XM_011536281.1:c.1885+86C>A	XP_011534583.1:n.1885+86C>A
XM_011536281.3:c.1885+86C>A	XP_011534583.1:n.1885+86C>A
XM_017011591.2:c.1948+86C>A	XP_016867080.1:n.1948+86C>A
XM_017011592.1:c.1399+86C>A	XP_016867081.1:n.1399+86C>A
XM_017011593.2:c.1018+86C>A	XP_016867082.1:n.1018+86C>A