Canonical Allele Identifier: CA365217079

Gene: FIG4

Linked Data

• gnomAD v4: 6-109792586-T-A
• MyVariant Identifiers: chr6:g.110113789T>A (hg19) ; chr6:g.109792586T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792586T>A , CM000668.2:g.109792586T>A	GRCh38
NC_000006.11:g.110113789T>A , CM000668.1:g.110113789T>A	GRCh37
NC_000006.10:g.110220482T>A	NCBI36
NG_007977.1:g.106366T>A , LRG_241:g.106366T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.2381T>A MANE Select	ENSP00000230124.4:p.Val794Glu
ENST00000415980.2:c.887T>A	ENSP00000405660.2:p.Val296Glu
ENST00000419951.2:n.729T>A
ENST00000674532.1:n.5577T>A
ENST00000674557.1:c.*1674T>A	ENSP00000501608.1:n.*1674T>A
ENST00000674569.1:c.*1500T>A	ENSP00000502769.1:n.*1500T>A
ENST00000674571.1:c.*1500T>A	ENSP00000501633.1:n.*1500T>A
ENST00000674575.1:c.*1500T>A	ENSP00000502276.1:n.*1500T>A
ENST00000674641.1:c.2036T>A	ENSP00000501609.1:p.Val679Glu
ENST00000674644.1:c.1451T>A	ENSP00000502201.1:p.Val484Glu
ENST00000674649.1:c.*2074T>A	ENSP00000501669.1:n.*2074T>A
ENST00000674657.1:c.*1813T>A	ENSP00000502314.1:n.*1813T>A
ENST00000674744.1:c.2375T>A	ENSP00000501661.1:p.Val792Glu
ENST00000674778.1:c.*1599T>A	ENSP00000502742.1:n.*1599T>A
ENST00000674783.1:c.*1296T>A	ENSP00000502755.1:n.*1296T>A
ENST00000674884.1:c.2399T>A	ENSP00000502668.1:p.Val800Glu
ENST00000674930.1:c.*1506T>A	ENSP00000502657.1:n.*1506T>A
ENST00000674933.1:c.2150T>A	ENSP00000502376.1:p.Val717Glu
ENST00000674956.1:c.*1595T>A	ENSP00000501904.1:n.*1595T>A
ENST00000675004.1:c.*2333T>A	ENSP00000501868.1:n.*2333T>A
ENST00000675009.1:c.*1765T>A	ENSP00000502098.1:n.*1765T>A
ENST00000675096.1:c.2174T>A	ENSP00000502116.1:p.Val725Glu
ENST00000675122.1:c.*488T>A	ENSP00000501810.1:n.*488T>A
ENST00000675153.1:c.*1098T>A	ENSP00000501682.1:n.*1098T>A
ENST00000675254.1:n.3840T>A
ENST00000675272.1:n.6679T>A
ENST00000675284.1:c.2381T>A	ENSP00000502758.1:p.Val794Glu
ENST00000675301.1:n.1038T>A
ENST00000675311.1:c.*1583T>A	ENSP00000501961.1:n.*1583T>A
ENST00000675426.1:c.*1449T>A	ENSP00000501819.1:n.*1449T>A
ENST00000675523.1:c.2150T>A	ENSP00000502384.1:p.Val717Glu
ENST00000675552.1:c.*4644T>A	ENSP00000502197.1:n.*4644T>A
ENST00000675726.1:c.2381T>A	ENSP00000502452.1:p.Val794Glu
ENST00000675772.1:c.2381T>A	ENSP00000501678.1:p.Val794Glu
ENST00000675831.1:c.1988T>A	ENSP00000502382.1:p.Val663Glu
ENST00000675849.1:n.2003T>A
ENST00000675879.1:c.1226T>A
ENST00000675887.1:c.*1984T>A	ENSP00000502123.1:n.*1984T>A
ENST00000675954.1:n.3714T>A
ENST00000675991.1:c.*4208T>A	ENSP00000502162.1:n.*4208T>A
ENST00000675994.1:c.*1520T>A	ENSP00000502419.1:n.*1520T>A
ENST00000676021.1:c.*959T>A	ENSP00000502746.1:n.*959T>A
ENST00000676037.1:c.*308T>A	ENSP00000502181.1:n.*308T>A
ENST00000676136.1:n.5028T>A
ENST00000676246.1:n.271T>A
ENST00000676442.1:c.2252T>A	ENSP00000502595.1:p.Val751Glu
ENST00000230124.7:c.2381T>A	ENSP00000230124.3:p.Val794Glu
NM_014845.5:c.2381T>A , LRG_241t1:c.2381T>A	NP_055660.1:p.Val794Glu
XM_011536281.1:c.2318T>A	XP_011534583.1:p.Val773Glu
XM_011536281.3:c.2318T>A	XP_011534583.1:p.Val773Glu
XM_017011592.1:c.1832T>A	XP_016867081.1:p.Val611Glu
XM_017011593.2:c.1451T>A	XP_016867082.1:p.Val484Glu
NM_014845.6:c.2381T>A MANE Select	NP_055660.1:p.Val794Glu