Canonical Allele Identifier: CA3955975

Gene: FIG4

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109743674G>A , CM000668.2:g.109743674G>A	GRCh38
NC_000006.11:g.110064877G>A , CM000668.1:g.110064877G>A	GRCh37
NC_000006.10:g.110171570G>A	NCBI36
NG_007977.1:g.57454G>A , LRG_241:g.57454G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014845.6:c.1040-1G>A MANE Select	NP_055660.1:n.1040-1G>A
ENST00000230124.8:c.1040-1G>A MANE Select	ENSP00000230124.4:n.1040-1G>A
NM_014845.5:c.1040-1G>A , LRG_241t1:c.1040-1G>A	NP_055660.1:n.1040-1G>A
ENST00000230124.7:c.1040-1G>A	ENSP00000230124.3:n.1040-1G>A
ENST00000415980.2:c.-223-18417G>A	ENSP00000405660.2:n.-223-18417G>A
ENST00000674532.1:n.4236-1G>A
ENST00000674557.1:c.*472-1G>A	ENSP00000501608.1:n.*472-1G>A
ENST00000674569.1:c.*159-1G>A	ENSP00000502769.1:n.*159-1G>A
ENST00000674571.1:c.*159-1G>A	ENSP00000501633.1:n.*159-1G>A
ENST00000674575.1:c.*159-1G>A	ENSP00000502276.1:n.*159-1G>A
ENST00000674641.1:c.695-1G>A	ENSP00000501609.1:n.695-1G>A
ENST00000674644.1:c.110-1G>A	ENSP00000502201.1:n.110-1G>A
ENST00000674649.1:c.*733-1G>A	ENSP00000501669.1:n.*733-1G>A
ENST00000674657.1:c.*472-1G>A	ENSP00000502314.1:n.*472-1G>A
ENST00000674744.1:c.1034-1G>A	ENSP00000501661.1:n.1034-1G>A
ENST00000674778.1:c.*159-1G>A	ENSP00000502742.1:n.*159-1G>A
ENST00000674783.1:c.1067G>A	ENSP00000502755.1:p.Ser356Asn
ENST00000674830.1:n.1011-1G>A
ENST00000674884.1:c.1058-1G>A	ENSP00000502668.1:n.1058-1G>A
ENST00000674930.1:c.*165-1G>A	ENSP00000502657.1:n.*165-1G>A
ENST00000674933.1:c.809-1G>A	ENSP00000502376.1:n.809-1G>A
ENST00000674956.1:c.*159-1G>A	ENSP00000501904.1:n.*159-1G>A
ENST00000675004.1:c.*992-1G>A	ENSP00000501868.1:n.*992-1G>A
ENST00000675009.1:c.*558-1G>A	ENSP00000502098.1:n.*558-1G>A
ENST00000675096.1:c.1040-1G>A	ENSP00000502116.1:n.1040-1G>A
ENST00000675122.1:c.1040-1G>A	ENSP00000501810.1:n.1040-1G>A
ENST00000675153.1:c.1040-1G>A	ENSP00000501682.1:n.1040-1G>A
ENST00000675272.1:n.5337G>A
ENST00000675284.1:c.1040-1G>A	ENSP00000502758.1:n.1040-1G>A
ENST00000675311.1:c.*242-1G>A	ENSP00000501961.1:n.*242-1G>A
ENST00000675426.1:c.*242-1G>A	ENSP00000501819.1:n.*242-1G>A
ENST00000675523.1:c.809-1G>A	ENSP00000502384.1:n.809-1G>A
ENST00000675552.1:c.*159-1G>A	ENSP00000502197.1:n.*159-1G>A
ENST00000675681.1:c.1040-1G>A	ENSP00000502705.1:n.1040-1G>A
ENST00000675714.1:c.1040-1G>A	ENSP00000502561.1:n.1040-1G>A
ENST00000675726.1:c.1040-1G>A	ENSP00000502452.1:n.1040-1G>A
ENST00000675772.1:c.1040-1G>A	ENSP00000501678.1:n.1040-1G>A
ENST00000675831.1:c.647-1G>A	ENSP00000502382.1:n.647-1G>A
ENST00000675847.1:n.1164-1G>A
ENST00000675887.1:c.*643-1G>A	ENSP00000502123.1:n.*643-1G>A
ENST00000675973.1:c.911-1G>A	ENSP00000502407.1:n.911-1G>A
ENST00000675991.1:c.*159-1G>A	ENSP00000502162.1:n.*159-1G>A
ENST00000675994.1:c.*159-1G>A	ENSP00000502419.1:n.*159-1G>A
ENST00000676021.1:c.1040-1G>A	ENSP00000502746.1:n.1040-1G>A
ENST00000676037.1:c.1040-1G>A	ENSP00000502181.1:n.1040-1G>A
ENST00000676136.1:n.1180-1G>A
ENST00000676442.1:c.911-1G>A	ENSP00000502595.1:n.911-1G>A
XM_011536281.1:c.977-1G>A	XP_011534583.1:n.977-1G>A
XM_011536281.3:c.977-1G>A	XP_011534583.1:n.977-1G>A
XM_017011591.2:c.1040-1G>A	XP_016867080.1:n.1040-1G>A
XM_017011592.1:c.491-1G>A	XP_016867081.1:n.491-1G>A
XM_017011593.2:c.110-1G>A	XP_016867082.1:n.110-1G>A