Canonical Allele Identifier: CA365217836

Gene: FIG4

Linked Data

• MyVariant Identifiers: chr6:g.110113847A>T (hg19) ; chr6:g.109792644A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792644A>T , CM000668.2:g.109792644A>T	GRCh38
NC_000006.11:g.110113847A>T , CM000668.1:g.110113847A>T	GRCh37
NC_000006.10:g.110220540A>T	NCBI36
NG_007977.1:g.106424A>T , LRG_241:g.106424A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2439A>T MANE Select	ENSP00000230124.4:p.Glu813Asp
ENST00000415980.2:c.945A>T	ENSP00000405660.2:p.Glu315Asp
ENST00000419951.2:n.787A>T
ENST00000674532.1:n.5635A>T
ENST00000674557.1:c.*1732A>T	ENSP00000501608.1:n.*1732A>T
ENST00000674569.1:c.*1558A>T	ENSP00000502769.1:n.*1558A>T
ENST00000674571.1:c.*1558A>T	ENSP00000501633.1:n.*1558A>T
ENST00000674575.1:c.*1558A>T	ENSP00000502276.1:n.*1558A>T
ENST00000674641.1:c.2094A>T	ENSP00000501609.1:p.Glu698Asp
ENST00000674649.1:c.*2132A>T	ENSP00000501669.1:n.*2132A>T
ENST00000674657.1:c.*1871A>T	ENSP00000502314.1:n.*1871A>T
ENST00000674744.1:c.2433A>T	ENSP00000501661.1:p.Glu811Asp
ENST00000674778.1:c.*1657A>T	ENSP00000502742.1:n.*1657A>T
ENST00000674783.1:c.*1354A>T	ENSP00000502755.1:n.*1354A>T
ENST00000674884.1:c.2457A>T	ENSP00000502668.1:p.Glu819Asp
ENST00000674930.1:c.*1564A>T	ENSP00000502657.1:n.*1564A>T
ENST00000674933.1:c.2208A>T	ENSP00000502376.1:p.Glu736Asp
ENST00000674956.1:c.*1653A>T	ENSP00000501904.1:n.*1653A>T
ENST00000675004.1:c.*2391A>T	ENSP00000501868.1:n.*2391A>T
ENST00000675009.1:c.*1823A>T	ENSP00000502098.1:n.*1823A>T
ENST00000675096.1:c.2232A>T	ENSP00000502116.1:p.Glu744Asp
ENST00000675122.1:c.*546A>T	ENSP00000501810.1:n.*546A>T
ENST00000675153.1:c.*1156A>T	ENSP00000501682.1:n.*1156A>T
ENST00000675254.1:n.3898A>T
ENST00000675272.1:n.6737A>T
ENST00000675284.1:c.2439A>T	ENSP00000502758.1:p.Glu813Asp
ENST00000675301.1:n.1096A>T
ENST00000675311.1:c.*1641A>T	ENSP00000501961.1:n.*1641A>T
ENST00000675426.1:c.*1507A>T	ENSP00000501819.1:n.*1507A>T
ENST00000675523.1:c.2208A>T	ENSP00000502384.1:p.Glu736Asp
ENST00000675552.1:c.*4702A>T	ENSP00000502197.1:n.*4702A>T
ENST00000675726.1:c.2439A>T	ENSP00000502452.1:p.Glu813Asp
ENST00000675772.1:c.2439A>T	ENSP00000501678.1:p.Glu813Asp
ENST00000675831.1:c.2046A>T	ENSP00000502382.1:p.Glu682Asp
ENST00000675849.1:n.2061A>T
ENST00000675879.1:c.1284A>T
ENST00000675954.1:n.3772A>T
ENST00000675991.1:c.*4266A>T	ENSP00000502162.1:n.*4266A>T
ENST00000675994.1:c.*1578A>T	ENSP00000502419.1:n.*1578A>T
ENST00000676021.1:c.*1017A>T	ENSP00000502746.1:n.*1017A>T
ENST00000676037.1:c.*366A>T	ENSP00000502181.1:n.*366A>T
ENST00000676136.1:n.5086A>T
ENST00000676246.1:n.329A>T
ENST00000676442.1:c.2310A>T	ENSP00000502595.1:p.Glu770Asp
ENST00000230124.7:c.2439A>T	ENSP00000230124.3:p.Glu813Asp
NM_014845.5:c.2439A>T , LRG_241t1:c.2439A>T	NP_055660.1:p.Glu813Asp
XM_011536281.1:c.2376A>T	XP_011534583.1:p.Glu792Asp
XM_011536281.3:c.2376A>T	XP_011534583.1:p.Glu792Asp
XM_017011592.1:c.1890A>T	XP_016867081.1:p.Glu630Asp
XM_017011593.2:c.1509A>T	XP_016867082.1:p.Glu503Asp
NM_014845.6:c.2439A>T MANE Select	NP_055660.1:p.Glu813Asp