Canonical Allele Identifier: CA365217075

Gene: FIG4

Linked Data

• gnomAD v4: 6-109792585-G-T
• MyVariant Identifiers: chr6:g.110113788G>T (hg19) ; chr6:g.109792585G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792585G>T , CM000668.2:g.109792585G>T	GRCh38
NC_000006.11:g.110113788G>T , CM000668.1:g.110113788G>T	GRCh37
NC_000006.10:g.110220481G>T	NCBI36
NG_007977.1:g.106365G>T , LRG_241:g.106365G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.2380G>T MANE Select	ENSP00000230124.4:p.Val794Leu
ENST00000415980.2:c.886G>T	ENSP00000405660.2:p.Val296Leu
ENST00000419951.2:n.728G>T
ENST00000674532.1:n.5576G>T
ENST00000674557.1:c.*1673G>T	ENSP00000501608.1:n.*1673G>T
ENST00000674569.1:c.*1499G>T	ENSP00000502769.1:n.*1499G>T
ENST00000674571.1:c.*1499G>T	ENSP00000501633.1:n.*1499G>T
ENST00000674575.1:c.*1499G>T	ENSP00000502276.1:n.*1499G>T
ENST00000674641.1:c.2035G>T	ENSP00000501609.1:p.Val679Leu
ENST00000674644.1:c.1450G>T	ENSP00000502201.1:p.Val484Leu
ENST00000674649.1:c.*2073G>T	ENSP00000501669.1:n.*2073G>T
ENST00000674657.1:c.*1812G>T	ENSP00000502314.1:n.*1812G>T
ENST00000674744.1:c.2374G>T	ENSP00000501661.1:p.Val792Leu
ENST00000674778.1:c.*1598G>T	ENSP00000502742.1:n.*1598G>T
ENST00000674783.1:c.*1295G>T	ENSP00000502755.1:n.*1295G>T
ENST00000674884.1:c.2398G>T	ENSP00000502668.1:p.Val800Leu
ENST00000674930.1:c.*1505G>T	ENSP00000502657.1:n.*1505G>T
ENST00000674933.1:c.2149G>T	ENSP00000502376.1:p.Val717Leu
ENST00000674956.1:c.*1594G>T	ENSP00000501904.1:n.*1594G>T
ENST00000675004.1:c.*2332G>T	ENSP00000501868.1:n.*2332G>T
ENST00000675009.1:c.*1764G>T	ENSP00000502098.1:n.*1764G>T
ENST00000675096.1:c.2173G>T	ENSP00000502116.1:p.Val725Leu
ENST00000675122.1:c.*487G>T	ENSP00000501810.1:n.*487G>T
ENST00000675153.1:c.*1097G>T	ENSP00000501682.1:n.*1097G>T
ENST00000675254.1:n.3839G>T
ENST00000675272.1:n.6678G>T
ENST00000675284.1:c.2380G>T	ENSP00000502758.1:p.Val794Leu
ENST00000675301.1:n.1037G>T
ENST00000675311.1:c.*1582G>T	ENSP00000501961.1:n.*1582G>T
ENST00000675426.1:c.*1448G>T	ENSP00000501819.1:n.*1448G>T
ENST00000675523.1:c.2149G>T	ENSP00000502384.1:p.Val717Leu
ENST00000675552.1:c.*4643G>T	ENSP00000502197.1:n.*4643G>T
ENST00000675726.1:c.2380G>T	ENSP00000502452.1:p.Val794Leu
ENST00000675772.1:c.2380G>T	ENSP00000501678.1:p.Val794Leu
ENST00000675831.1:c.1987G>T	ENSP00000502382.1:p.Val663Leu
ENST00000675849.1:n.2002G>T
ENST00000675879.1:c.1225G>T
ENST00000675887.1:c.*1983G>T	ENSP00000502123.1:n.*1983G>T
ENST00000675954.1:n.3713G>T
ENST00000675991.1:c.*4207G>T	ENSP00000502162.1:n.*4207G>T
ENST00000675994.1:c.*1519G>T	ENSP00000502419.1:n.*1519G>T
ENST00000676021.1:c.*958G>T	ENSP00000502746.1:n.*958G>T
ENST00000676037.1:c.*307G>T	ENSP00000502181.1:n.*307G>T
ENST00000676136.1:n.5027G>T
ENST00000676246.1:n.270G>T
ENST00000676442.1:c.2251G>T	ENSP00000502595.1:p.Val751Leu
ENST00000230124.7:c.2380G>T	ENSP00000230124.3:p.Val794Leu
NM_014845.5:c.2380G>T , LRG_241t1:c.2380G>T	NP_055660.1:p.Val794Leu
XM_011536281.1:c.2317G>T	XP_011534583.1:p.Val773Leu
XM_011536281.3:c.2317G>T	XP_011534583.1:p.Val773Leu
XM_017011592.1:c.1831G>T	XP_016867081.1:p.Val611Leu
XM_017011593.2:c.1450G>T	XP_016867082.1:p.Val484Leu
NM_014845.6:c.2380G>T MANE Select	NP_055660.1:p.Val794Leu