Canonical Allele Identifier: CA2679972320

Gene: FIG4

Linked Data

• gnomAD v4: 6-109792475-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792475A>T , CM000668.2:g.109792475A>T	GRCh38
NC_000006.11:g.110113678A>T , CM000668.1:g.110113678A>T	GRCh37
NC_000006.10:g.110220371A>T	NCBI36
NG_007977.1:g.106255A>T , LRG_241:g.106255A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.2377-107A>T MANE Select	ENSP00000230124.4:n.2377-107A>T
ENST00000415980.2:c.883-107A>T	ENSP00000405660.2:n.883-107A>T
ENST00000419951.2:n.725-107A>T
ENST00000674532.1:n.5573-107A>T
ENST00000674557.1:c.*1670-107A>T	ENSP00000501608.1:n.*1670-107A>T
ENST00000674569.1:c.*1496-107A>T	ENSP00000502769.1:n.*1496-107A>T
ENST00000674571.1:c.*1496-107A>T	ENSP00000501633.1:n.*1496-107A>T
ENST00000674575.1:c.*1496-107A>T	ENSP00000502276.1:n.*1496-107A>T
ENST00000674641.1:c.2032-107A>T	ENSP00000501609.1:n.2032-107A>T
ENST00000674644.1:c.1447-107A>T	ENSP00000502201.1:n.1447-107A>T
ENST00000674649.1:c.*2070-107A>T	ENSP00000501669.1:n.*2070-107A>T
ENST00000674657.1:c.*1809-107A>T	ENSP00000502314.1:n.*1809-107A>T
ENST00000674744.1:c.2371-107A>T	ENSP00000501661.1:n.2371-107A>T
ENST00000674778.1:c.*1595-107A>T	ENSP00000502742.1:n.*1595-107A>T
ENST00000674783.1:c.*1292-107A>T	ENSP00000502755.1:n.*1292-107A>T
ENST00000674884.1:c.2395-107A>T	ENSP00000502668.1:n.2395-107A>T
ENST00000674930.1:c.*1502-107A>T	ENSP00000502657.1:n.*1502-107A>T
ENST00000674933.1:c.2146-107A>T	ENSP00000502376.1:n.2146-107A>T
ENST00000674956.1:c.*1591-107A>T	ENSP00000501904.1:n.*1591-107A>T
ENST00000675004.1:c.*2329-107A>T	ENSP00000501868.1:n.*2329-107A>T
ENST00000675009.1:c.*1761-107A>T	ENSP00000502098.1:n.*1761-107A>T
ENST00000675096.1:c.2170-107A>T	ENSP00000502116.1:n.2170-107A>T
ENST00000675122.1:c.*484-107A>T	ENSP00000501810.1:n.*484-107A>T
ENST00000675153.1:c.*1094-107A>T	ENSP00000501682.1:n.*1094-107A>T
ENST00000675254.1:n.3729A>T
ENST00000675272.1:n.6675-107A>T
ENST00000675284.1:c.2377-107A>T	ENSP00000502758.1:n.2377-107A>T
ENST00000675301.1:n.1034-107A>T
ENST00000675311.1:c.*1579-107A>T	ENSP00000501961.1:n.*1579-107A>T
ENST00000675426.1:c.*1445-107A>T	ENSP00000501819.1:n.*1445-107A>T
ENST00000675523.1:c.2146-107A>T	ENSP00000502384.1:n.2146-107A>T
ENST00000675552.1:c.*4640-107A>T	ENSP00000502197.1:n.*4640-107A>T
ENST00000675726.1:c.2377-107A>T	ENSP00000502452.1:n.2377-107A>T
ENST00000675772.1:c.2377-107A>T	ENSP00000501678.1:n.2377-107A>T
ENST00000675831.1:c.1984-107A>T	ENSP00000502382.1:n.1984-107A>T
ENST00000675849.1:n.1999-107A>T
ENST00000675879.1:c.1222-107A>T
ENST00000675887.1:c.*1980-107A>T	ENSP00000502123.1:n.*1980-107A>T
ENST00000675954.1:n.3710-107A>T
ENST00000675991.1:c.*4097A>T	ENSP00000502162.1:n.*4097A>T
ENST00000675994.1:c.*1516-107A>T	ENSP00000502419.1:n.*1516-107A>T
ENST00000676021.1:c.*955-107A>T	ENSP00000502746.1:n.*955-107A>T
ENST00000676037.1:c.*304-107A>T	ENSP00000502181.1:n.*304-107A>T
ENST00000676136.1:n.5024-107A>T
ENST00000676246.1:n.267-107A>T
ENST00000676442.1:c.2248-107A>T	ENSP00000502595.1:n.2248-107A>T
ENST00000230124.7:c.2377-107A>T	ENSP00000230124.3:n.2377-107A>T
NM_014845.5:c.2377-107A>T , LRG_241t1:c.2377-107A>T	NP_055660.1:n.2377-107A>T
XM_011536281.1:c.2314-107A>T	XP_011534583.1:n.2314-107A>T
XM_011536281.3:c.2314-107A>T	XP_011534583.1:n.2314-107A>T
XM_017011592.1:c.1828-107A>T	XP_016867081.1:n.1828-107A>T
XM_017011593.2:c.1447-107A>T	XP_016867082.1:n.1447-107A>T
NM_014845.6:c.2377-107A>T MANE Select	NP_055660.1:n.2377-107A>T