Canonical Allele Identifier: CA365217964

Gene: FIG4

Linked Data

• MyVariant Identifiers: chr6:g.110113863T>G (hg19) ; chr6:g.109792660T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792660T>G , CM000668.2:g.109792660T>G	GRCh38
NC_000006.11:g.110113863T>G , CM000668.1:g.110113863T>G	GRCh37
NC_000006.10:g.110220556T>G	NCBI36
NG_007977.1:g.106440T>G , LRG_241:g.106440T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2455T>G MANE Select	ENSP00000230124.4:p.Ser819Ala
ENST00000415980.2:c.961T>G	ENSP00000405660.2:p.Ser321Ala
ENST00000419951.2:n.803T>G
ENST00000674532.1:n.5651T>G
ENST00000674557.1:c.*1748T>G	ENSP00000501608.1:n.*1748T>G
ENST00000674569.1:c.*1574T>G	ENSP00000502769.1:n.*1574T>G
ENST00000674571.1:c.*1574T>G	ENSP00000501633.1:n.*1574T>G
ENST00000674575.1:c.*1574T>G	ENSP00000502276.1:n.*1574T>G
ENST00000674641.1:c.2110T>G	ENSP00000501609.1:p.Ser704Ala
ENST00000674649.1:c.*2148T>G	ENSP00000501669.1:n.*2148T>G
ENST00000674657.1:c.*1887T>G	ENSP00000502314.1:n.*1887T>G
ENST00000674744.1:c.2449T>G	ENSP00000501661.1:p.Ser817Ala
ENST00000674778.1:c.*1673T>G	ENSP00000502742.1:n.*1673T>G
ENST00000674783.1:c.*1370T>G	ENSP00000502755.1:n.*1370T>G
ENST00000674884.1:c.2473T>G	ENSP00000502668.1:p.Ser825Ala
ENST00000674930.1:c.*1580T>G	ENSP00000502657.1:n.*1580T>G
ENST00000674933.1:c.2224T>G	ENSP00000502376.1:p.Ser742Ala
ENST00000674956.1:c.*1669T>G	ENSP00000501904.1:n.*1669T>G
ENST00000675004.1:c.*2407T>G	ENSP00000501868.1:n.*2407T>G
ENST00000675009.1:c.*1839T>G	ENSP00000502098.1:n.*1839T>G
ENST00000675096.1:c.2248T>G	ENSP00000502116.1:p.Ser750Ala
ENST00000675122.1:c.*562T>G	ENSP00000501810.1:n.*562T>G
ENST00000675153.1:c.*1172T>G	ENSP00000501682.1:n.*1172T>G
ENST00000675254.1:n.3914T>G
ENST00000675272.1:n.6753T>G
ENST00000675284.1:c.2455T>G	ENSP00000502758.1:p.Ser819Ala
ENST00000675301.1:n.1112T>G
ENST00000675311.1:c.*1657T>G	ENSP00000501961.1:n.*1657T>G
ENST00000675426.1:c.*1523T>G	ENSP00000501819.1:n.*1523T>G
ENST00000675523.1:c.2224T>G	ENSP00000502384.1:p.Ser742Ala
ENST00000675552.1:c.*4718T>G	ENSP00000502197.1:n.*4718T>G
ENST00000675726.1:c.2455T>G	ENSP00000502452.1:p.Ser819Ala
ENST00000675772.1:c.2455T>G	ENSP00000501678.1:p.Ser819Ala
ENST00000675831.1:c.2062T>G	ENSP00000502382.1:p.Ser688Ala
ENST00000675849.1:n.2077T>G
ENST00000675879.1:c.1300T>G
ENST00000675954.1:n.3788T>G
ENST00000675991.1:c.*4282T>G	ENSP00000502162.1:n.*4282T>G
ENST00000675994.1:c.*1594T>G	ENSP00000502419.1:n.*1594T>G
ENST00000676021.1:c.*1033T>G	ENSP00000502746.1:n.*1033T>G
ENST00000676037.1:c.*382T>G	ENSP00000502181.1:n.*382T>G
ENST00000676136.1:n.5102T>G
ENST00000676246.1:n.345T>G
ENST00000676442.1:c.2326T>G	ENSP00000502595.1:p.Ser776Ala
ENST00000230124.7:c.2455T>G	ENSP00000230124.3:p.Ser819Ala
NM_014845.5:c.2455T>G , LRG_241t1:c.2455T>G	NP_055660.1:p.Ser819Ala
XM_011536281.1:c.2392T>G	XP_011534583.1:p.Ser798Ala
XM_011536281.3:c.2392T>G	XP_011534583.1:p.Ser798Ala
XM_017011592.1:c.1906T>G	XP_016867081.1:p.Ser636Ala
XM_017011593.2:c.1525T>G	XP_016867082.1:p.Ser509Ala
NM_014845.6:c.2455T>G MANE Select	NP_055660.1:p.Ser819Ala