Canonical Allele Identifier: CA365220580

Gene: FIG4

Linked Data

• dbSNP Id: rs1252224103
• gnomAD v2: 6-110059570-G-A
• gnomAD v4: 6-109738367-G-A
• MyVariant Identifiers: chr6:g.110059570G>A (hg19) ; chr6:g.109738367G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109738367G>A , CM000668.2:g.109738367G>A	GRCh38
NC_000006.11:g.110059570G>A , CM000668.1:g.110059570G>A	GRCh37
NC_000006.10:g.110166263G>A	NCBI36
NG_007977.1:g.52147G>A , LRG_241:g.52147G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.689G>A MANE Select	ENSP00000230124.4:p.Trp230Ter
ENST00000368941.2:c.646+3069G>A	ENSP00000357937.2:n.646+3069G>A
ENST00000415980.2:c.-223-23724G>A	ENSP00000405660.2:n.-223-23724G>A
ENST00000454215.6:c.689G>A	ENSP00000412156.2:p.Trp230Ter
ENST00000674532.1:n.3885G>A
ENST00000674557.1:c.*121G>A	ENSP00000501608.1:n.*121G>A
ENST00000674569.1:c.646+3069G>A	ENSP00000502769.1:n.646+3069G>A
ENST00000674571.1:c.646+3069G>A	ENSP00000501633.1:n.646+3069G>A
ENST00000674575.1:c.640+3069G>A	ENSP00000502276.1:n.640+3069G>A
ENST00000674641.1:c.344G>A	ENSP00000501609.1:p.Trp115Ter
ENST00000674644.1:c.-55+3069G>A	ENSP00000502201.1:n.-55+3069G>A
ENST00000674649.1:c.*382G>A	ENSP00000501669.1:n.*382G>A
ENST00000674657.1:c.*121G>A	ENSP00000502314.1:n.*121G>A
ENST00000674744.1:c.683G>A	ENSP00000501661.1:p.Trp228Ter
ENST00000674778.1:c.646+3069G>A	ENSP00000502742.1:n.646+3069G>A
ENST00000674783.1:c.689G>A	ENSP00000502755.1:p.Trp230Ter
ENST00000674830.1:n.660G>A
ENST00000674884.1:c.707G>A	ENSP00000502668.1:p.Trp236Ter
ENST00000674930.1:c.*164+3069G>A	ENSP00000502657.1:n.*164+3069G>A
ENST00000674933.1:c.458G>A	ENSP00000502376.1:p.Trp153Ter
ENST00000674956.1:c.646+3069G>A	ENSP00000501904.1:n.646+3069G>A
ENST00000675002.1:n.777G>A
ENST00000675004.1:c.*641G>A	ENSP00000501868.1:n.*641G>A
ENST00000675009.1:c.*207G>A	ENSP00000502098.1:n.*207G>A
ENST00000675096.1:c.689G>A	ENSP00000502116.1:p.Trp230Ter
ENST00000675122.1:c.689G>A	ENSP00000501810.1:p.Trp230Ter
ENST00000675153.1:c.689G>A	ENSP00000501682.1:p.Trp230Ter
ENST00000675272.1:n.1595G>A
ENST00000675284.1:c.689G>A	ENSP00000502758.1:p.Trp230Ter
ENST00000675311.1:c.*78+3069G>A	ENSP00000501961.1:n.*78+3069G>A
ENST00000675426.1:c.*78+3069G>A	ENSP00000501819.1:n.*78+3069G>A
ENST00000675523.1:c.458G>A	ENSP00000502384.1:p.Trp153Ter
ENST00000675552.1:c.646+3069G>A	ENSP00000502197.1:n.646+3069G>A
ENST00000675681.1:c.689G>A	ENSP00000502705.1:p.Trp230Ter
ENST00000675714.1:c.689G>A	ENSP00000502561.1:p.Trp230Ter
ENST00000675726.1:c.689G>A	ENSP00000502452.1:p.Trp230Ter
ENST00000675772.1:c.689G>A	ENSP00000501678.1:p.Trp230Ter
ENST00000675831.1:c.646+3069G>A	ENSP00000502382.1:n.646+3069G>A
ENST00000675844.1:c.458G>A	ENSP00000502353.1:p.Trp153Ter
ENST00000675847.1:n.813G>A
ENST00000675887.1:c.*292G>A	ENSP00000502123.1:n.*292G>A
ENST00000675973.1:c.646+3069G>A	ENSP00000502407.1:n.646+3069G>A
ENST00000675991.1:c.646+3069G>A	ENSP00000502162.1:n.646+3069G>A
ENST00000675994.1:c.646+3069G>A	ENSP00000502419.1:n.646+3069G>A
ENST00000676021.1:c.689G>A	ENSP00000502746.1:p.Trp230Ter
ENST00000676037.1:c.689G>A	ENSP00000502181.1:p.Trp230Ter
ENST00000676136.1:n.829G>A
ENST00000676435.1:c.689G>A	ENSP00000502614.1:p.Trp230Ter
ENST00000676442.1:c.646+3069G>A	ENSP00000502595.1:n.646+3069G>A
ENST00000230124.7:c.689G>A	ENSP00000230124.3:p.Trp230Ter
ENST00000368941.1:c.415+3069G>A	ENSP00000357937.1:n.415+3069G>A
ENST00000454215.5:c.626G>A	ENSP00000412156.1:p.Trp209Ter
NM_014845.5:c.689G>A , LRG_241t1:c.689G>A	NP_055660.1:p.Trp230Ter
XM_011536281.1:c.626G>A	XP_011534583.1:p.Trp209Ter
XM_011536281.3:c.626G>A	XP_011534583.1:p.Trp209Ter
XM_017011591.2:c.689G>A	XP_016867080.1:p.Trp230Ter
XM_017011592.1:c.140G>A	XP_016867081.1:p.Trp47Ter
XM_017011593.2:c.-55+3069G>A	XP_016867082.1:n.-55+3069G>A
NM_014845.6:c.689G>A MANE Select	NP_055660.1:p.Trp230Ter