Canonical Allele Identifier: CA365217053

Gene: FIG4

Linked Data

• gnomAD v4: 6-109792582-A-T
• MyVariant Identifiers: chr6:g.110113785A>T (hg19) ; chr6:g.109792582A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792582A>T , CM000668.2:g.109792582A>T	GRCh38
NC_000006.11:g.110113785A>T , CM000668.1:g.110113785A>T	GRCh37
NC_000006.10:g.110220478A>T	NCBI36
NG_007977.1:g.106362A>T , LRG_241:g.106362A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.2377A>T MANE Select	ENSP00000230124.4:p.Asn793Tyr
ENST00000415980.2:c.883A>T	ENSP00000405660.2:p.Asn295Tyr
ENST00000419951.2:n.725A>T
ENST00000674532.1:n.5573A>T
ENST00000674557.1:c.*1670A>T	ENSP00000501608.1:n.*1670A>T
ENST00000674569.1:c.*1496A>T	ENSP00000502769.1:n.*1496A>T
ENST00000674571.1:c.*1496A>T	ENSP00000501633.1:n.*1496A>T
ENST00000674575.1:c.*1496A>T	ENSP00000502276.1:n.*1496A>T
ENST00000674641.1:c.2032A>T	ENSP00000501609.1:p.Asn678Tyr
ENST00000674644.1:c.1447A>T	ENSP00000502201.1:p.Asn483Tyr
ENST00000674649.1:c.*2070A>T	ENSP00000501669.1:n.*2070A>T
ENST00000674657.1:c.*1809A>T	ENSP00000502314.1:n.*1809A>T
ENST00000674744.1:c.2371A>T	ENSP00000501661.1:p.Asn791Tyr
ENST00000674778.1:c.*1595A>T	ENSP00000502742.1:n.*1595A>T
ENST00000674783.1:c.*1292A>T	ENSP00000502755.1:n.*1292A>T
ENST00000674884.1:c.2395A>T	ENSP00000502668.1:p.Asn799Tyr
ENST00000674930.1:c.*1502A>T	ENSP00000502657.1:n.*1502A>T
ENST00000674933.1:c.2146A>T	ENSP00000502376.1:p.Asn716Tyr
ENST00000674956.1:c.*1591A>T	ENSP00000501904.1:n.*1591A>T
ENST00000675004.1:c.*2329A>T	ENSP00000501868.1:n.*2329A>T
ENST00000675009.1:c.*1761A>T	ENSP00000502098.1:n.*1761A>T
ENST00000675096.1:c.2170A>T	ENSP00000502116.1:p.Asn724Tyr
ENST00000675122.1:c.*484A>T	ENSP00000501810.1:n.*484A>T
ENST00000675153.1:c.*1094A>T	ENSP00000501682.1:n.*1094A>T
ENST00000675254.1:n.3836A>T
ENST00000675272.1:n.6675A>T
ENST00000675284.1:c.2377A>T	ENSP00000502758.1:p.Asn793Tyr
ENST00000675301.1:n.1034A>T
ENST00000675311.1:c.*1579A>T	ENSP00000501961.1:n.*1579A>T
ENST00000675426.1:c.*1445A>T	ENSP00000501819.1:n.*1445A>T
ENST00000675523.1:c.2146A>T	ENSP00000502384.1:p.Asn716Tyr
ENST00000675552.1:c.*4640A>T	ENSP00000502197.1:n.*4640A>T
ENST00000675726.1:c.2377A>T	ENSP00000502452.1:p.Asn793Tyr
ENST00000675772.1:c.2377A>T	ENSP00000501678.1:p.Asn793Tyr
ENST00000675831.1:c.1984A>T	ENSP00000502382.1:p.Asn662Tyr
ENST00000675849.1:n.1999A>T
ENST00000675879.1:c.1222A>T
ENST00000675887.1:c.*1980A>T	ENSP00000502123.1:n.*1980A>T
ENST00000675954.1:n.3710A>T
ENST00000675991.1:c.*4204A>T	ENSP00000502162.1:n.*4204A>T
ENST00000675994.1:c.*1516A>T	ENSP00000502419.1:n.*1516A>T
ENST00000676021.1:c.*955A>T	ENSP00000502746.1:n.*955A>T
ENST00000676037.1:c.*304A>T	ENSP00000502181.1:n.*304A>T
ENST00000676136.1:n.5024A>T
ENST00000676246.1:n.267A>T
ENST00000676442.1:c.2248A>T	ENSP00000502595.1:p.Asn750Tyr
ENST00000230124.7:c.2377A>T	ENSP00000230124.3:p.Asn793Tyr
NM_014845.5:c.2377A>T , LRG_241t1:c.2377A>T	NP_055660.1:p.Asn793Tyr
XM_011536281.1:c.2314A>T	XP_011534583.1:p.Asn772Tyr
XM_011536281.3:c.2314A>T	XP_011534583.1:p.Asn772Tyr
XM_017011592.1:c.1828A>T	XP_016867081.1:p.Asn610Tyr
XM_017011593.2:c.1447A>T	XP_016867082.1:p.Asn483Tyr
NM_014845.6:c.2377A>T MANE Select	NP_055660.1:p.Asn793Tyr