Canonical Allele Identifier: CA143922

Gene: FIG4

Linked Data

• ClinVar Variation Id: 50994
• ClinVar RCV Id: RCV000043690 ; RCV003447105
• dbSNP Id: rs397509395
• gnomAD v4: 6-109727130-G-A
• MyVariant Identifiers: chr6:g.110048333G>A (hg19) ; chr6:g.109727130G>A (hg38)
• PubMed: PMID:2319578 ; PMID:23623387

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109727130G>A , CM000668.2:g.109727130G>A	GRCh38
NC_000006.11:g.110048333G>A , CM000668.1:g.110048333G>A	GRCh37
NC_000006.10:g.110155026G>A	NCBI36
NG_007977.1:g.40910G>A , LRG_241:g.40910G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.311G>A MANE Select	ENSP00000230124.4:p.Gly104Asp
ENST00000368941.2:c.311G>A	ENSP00000357937.2:p.Gly104Asp
ENST00000415980.2:c.-223-34961G>A	ENSP00000405660.2:n.-223-34961G>A
ENST00000454215.6:c.311G>A	ENSP00000412156.2:p.Gly104Asp
ENST00000674532.1:n.481G>A
ENST00000674557.1:c.290-5507G>A	ENSP00000501608.1:n.290-5507G>A
ENST00000674569.1:c.311G>A	ENSP00000502769.1:p.Gly104Asp
ENST00000674571.1:c.311G>A	ENSP00000501633.1:p.Gly104Asp
ENST00000674575.1:c.311G>A	ENSP00000502276.1:p.Gly104Asp
ENST00000674614.1:n.414-5507G>A
ENST00000674641.1:c.-35G>A	ENSP00000501609.1:n.-35G>A
ENST00000674644.1:c.-254-5507G>A	ENSP00000502201.1:n.-254-5507G>A
ENST00000674649.1:c.*4G>A	ENSP00000501669.1:n.*4G>A
ENST00000674657.1:c.290-5507G>A	ENSP00000502314.1:n.290-5507G>A
ENST00000674744.1:c.311G>A	ENSP00000501661.1:p.Gly104Asp
ENST00000674778.1:c.311G>A	ENSP00000502742.1:p.Gly104Asp
ENST00000674783.1:c.311G>A	ENSP00000502755.1:p.Gly104Asp
ENST00000674830.1:n.282G>A
ENST00000674884.1:c.311G>A	ENSP00000502668.1:p.Gly104Asp
ENST00000674930.1:c.166-5507G>A	ENSP00000502657.1:n.166-5507G>A
ENST00000674933.1:c.80G>A	ENSP00000502376.1:p.Gly27Asp
ENST00000674956.1:c.311G>A	ENSP00000501904.1:p.Gly104Asp
ENST00000675002.1:n.399G>A
ENST00000675004.1:c.*263G>A	ENSP00000501868.1:n.*263G>A
ENST00000675009.1:c.166-5507G>A	ENSP00000502098.1:n.166-5507G>A
ENST00000675096.1:c.311G>A	ENSP00000502116.1:p.Gly104Asp
ENST00000675122.1:c.311G>A	ENSP00000501810.1:p.Gly104Asp
ENST00000675153.1:c.311G>A	ENSP00000501682.1:p.Gly104Asp
ENST00000675284.1:c.311G>A	ENSP00000502758.1:p.Gly104Asp
ENST00000675311.1:c.290-5507G>A	ENSP00000501961.1:n.290-5507G>A
ENST00000675426.1:c.290-5507G>A	ENSP00000501819.1:n.290-5507G>A
ENST00000675523.1:c.80G>A	ENSP00000502384.1:p.Gly27Asp
ENST00000675552.1:c.311G>A	ENSP00000502197.1:p.Gly104Asp
ENST00000675606.1:c.80G>A	ENSP00000501583.1:p.Gly27Asp
ENST00000675681.1:c.311G>A	ENSP00000502705.1:p.Gly104Asp
ENST00000675714.1:c.311G>A	ENSP00000502561.1:p.Gly104Asp
ENST00000675726.1:c.311G>A	ENSP00000502452.1:p.Gly104Asp
ENST00000675772.1:c.311G>A	ENSP00000501678.1:p.Gly104Asp
ENST00000675831.1:c.311G>A	ENSP00000502382.1:p.Gly104Asp
ENST00000675834.1:n.22G>A
ENST00000675844.1:c.80G>A	ENSP00000502353.1:p.Gly27Asp
ENST00000675847.1:n.435G>A
ENST00000675887.1:c.290-28G>A	ENSP00000502123.1:n.290-28G>A
ENST00000675973.1:c.311G>A	ENSP00000502407.1:p.Gly104Asp
ENST00000675991.1:c.311G>A	ENSP00000502162.1:p.Gly104Asp
ENST00000675994.1:c.311G>A	ENSP00000502419.1:p.Gly104Asp
ENST00000676021.1:c.311G>A	ENSP00000502746.1:p.Gly104Asp
ENST00000676037.1:c.311G>A	ENSP00000502181.1:p.Gly104Asp
ENST00000676136.1:n.451G>A
ENST00000676435.1:c.311G>A	ENSP00000502614.1:p.Gly104Asp
ENST00000676442.1:c.311G>A	ENSP00000502595.1:p.Gly104Asp
ENST00000230124.7:c.311G>A	ENSP00000230124.3:p.Gly104Asp
ENST00000368941.1:c.80G>A	ENSP00000357937.1:p.Gly27Asp
ENST00000454215.5:c.248G>A	ENSP00000412156.1:p.Gly83Asp
NM_014845.5:c.311G>A , LRG_241t1:c.311G>A	NP_055660.1:p.Gly104Asp
XM_011536281.1:c.248G>A	XP_011534583.1:p.Gly83Asp
XM_011536281.3:c.248G>A	XP_011534583.1:p.Gly83Asp
XM_017011591.2:c.311G>A	XP_016867080.1:p.Gly104Asp
XM_017011592.1:c.-103-5507G>A	XP_016867081.1:n.-103-5507G>A
XM_017011593.2:c.-390G>A	XP_016867082.1:n.-390G>A
NM_014845.6:c.311G>A MANE Select	NP_055660.1:p.Gly104Asp