Canonical Allele Identifier: CA365217071

Gene: FIG4

Linked Data

• gnomAD v4: 6-109792584-T-A
• MyVariant Identifiers: chr6:g.110113787T>A (hg19) ; chr6:g.109792584T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792584T>A , CM000668.2:g.109792584T>A	GRCh38
NC_000006.11:g.110113787T>A , CM000668.1:g.110113787T>A	GRCh37
NC_000006.10:g.110220480T>A	NCBI36
NG_007977.1:g.106364T>A , LRG_241:g.106364T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2379T>A MANE Select	ENSP00000230124.4:p.Asn793Lys
ENST00000415980.2:c.885T>A	ENSP00000405660.2:p.Asn295Lys
ENST00000419951.2:n.727T>A
ENST00000674532.1:n.5575T>A
ENST00000674557.1:c.*1672T>A	ENSP00000501608.1:n.*1672T>A
ENST00000674569.1:c.*1498T>A	ENSP00000502769.1:n.*1498T>A
ENST00000674571.1:c.*1498T>A	ENSP00000501633.1:n.*1498T>A
ENST00000674575.1:c.*1498T>A	ENSP00000502276.1:n.*1498T>A
ENST00000674641.1:c.2034T>A	ENSP00000501609.1:p.Asn678Lys
ENST00000674644.1:c.1449T>A	ENSP00000502201.1:p.Asn483Lys
ENST00000674649.1:c.*2072T>A	ENSP00000501669.1:n.*2072T>A
ENST00000674657.1:c.*1811T>A	ENSP00000502314.1:n.*1811T>A
ENST00000674744.1:c.2373T>A	ENSP00000501661.1:p.Asn791Lys
ENST00000674778.1:c.*1597T>A	ENSP00000502742.1:n.*1597T>A
ENST00000674783.1:c.*1294T>A	ENSP00000502755.1:n.*1294T>A
ENST00000674884.1:c.2397T>A	ENSP00000502668.1:p.Asn799Lys
ENST00000674930.1:c.*1504T>A	ENSP00000502657.1:n.*1504T>A
ENST00000674933.1:c.2148T>A	ENSP00000502376.1:p.Asn716Lys
ENST00000674956.1:c.*1593T>A	ENSP00000501904.1:n.*1593T>A
ENST00000675004.1:c.*2331T>A	ENSP00000501868.1:n.*2331T>A
ENST00000675009.1:c.*1763T>A	ENSP00000502098.1:n.*1763T>A
ENST00000675096.1:c.2172T>A	ENSP00000502116.1:p.Asn724Lys
ENST00000675122.1:c.*486T>A	ENSP00000501810.1:n.*486T>A
ENST00000675153.1:c.*1096T>A	ENSP00000501682.1:n.*1096T>A
ENST00000675254.1:n.3838T>A
ENST00000675272.1:n.6677T>A
ENST00000675284.1:c.2379T>A	ENSP00000502758.1:p.Asn793Lys
ENST00000675301.1:n.1036T>A
ENST00000675311.1:c.*1581T>A	ENSP00000501961.1:n.*1581T>A
ENST00000675426.1:c.*1447T>A	ENSP00000501819.1:n.*1447T>A
ENST00000675523.1:c.2148T>A	ENSP00000502384.1:p.Asn716Lys
ENST00000675552.1:c.*4642T>A	ENSP00000502197.1:n.*4642T>A
ENST00000675726.1:c.2379T>A	ENSP00000502452.1:p.Asn793Lys
ENST00000675772.1:c.2379T>A	ENSP00000501678.1:p.Asn793Lys
ENST00000675831.1:c.1986T>A	ENSP00000502382.1:p.Asn662Lys
ENST00000675849.1:n.2001T>A
ENST00000675879.1:c.1224T>A
ENST00000675887.1:c.*1982T>A	ENSP00000502123.1:n.*1982T>A
ENST00000675954.1:n.3712T>A
ENST00000675991.1:c.*4206T>A	ENSP00000502162.1:n.*4206T>A
ENST00000675994.1:c.*1518T>A	ENSP00000502419.1:n.*1518T>A
ENST00000676021.1:c.*957T>A	ENSP00000502746.1:n.*957T>A
ENST00000676037.1:c.*306T>A	ENSP00000502181.1:n.*306T>A
ENST00000676136.1:n.5026T>A
ENST00000676246.1:n.269T>A
ENST00000676442.1:c.2250T>A	ENSP00000502595.1:p.Asn750Lys
ENST00000230124.7:c.2379T>A	ENSP00000230124.3:p.Asn793Lys
NM_014845.5:c.2379T>A , LRG_241t1:c.2379T>A	NP_055660.1:p.Asn793Lys
XM_011536281.1:c.2316T>A	XP_011534583.1:p.Asn772Lys
XM_011536281.3:c.2316T>A	XP_011534583.1:p.Asn772Lys
XM_017011592.1:c.1830T>A	XP_016867081.1:p.Asn610Lys
XM_017011593.2:c.1449T>A	XP_016867082.1:p.Asn483Lys
NM_014845.6:c.2379T>A MANE Select	NP_055660.1:p.Asn793Lys