Canonical Allele Identifier: CA365217903

Gene: FIG4

Linked Data

• MyVariant Identifiers: chr6:g.110113855C>G (hg19) ; chr6:g.109792652C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792652C>G , CM000668.2:g.109792652C>G	GRCh38
NC_000006.11:g.110113855C>G , CM000668.1:g.110113855C>G	GRCh37
NC_000006.10:g.110220548C>G	NCBI36
NG_007977.1:g.106432C>G , LRG_241:g.106432C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2447C>G MANE Select	ENSP00000230124.4:p.Ser816Cys
ENST00000415980.2:c.953C>G	ENSP00000405660.2:p.Ser318Cys
ENST00000419951.2:n.795C>G
ENST00000674532.1:n.5643C>G
ENST00000674557.1:c.*1740C>G	ENSP00000501608.1:n.*1740C>G
ENST00000674569.1:c.*1566C>G	ENSP00000502769.1:n.*1566C>G
ENST00000674571.1:c.*1566C>G	ENSP00000501633.1:n.*1566C>G
ENST00000674575.1:c.*1566C>G	ENSP00000502276.1:n.*1566C>G
ENST00000674641.1:c.2102C>G	ENSP00000501609.1:p.Ser701Cys
ENST00000674649.1:c.*2140C>G	ENSP00000501669.1:n.*2140C>G
ENST00000674657.1:c.*1879C>G	ENSP00000502314.1:n.*1879C>G
ENST00000674744.1:c.2441C>G	ENSP00000501661.1:p.Ser814Cys
ENST00000674778.1:c.*1665C>G	ENSP00000502742.1:n.*1665C>G
ENST00000674783.1:c.*1362C>G	ENSP00000502755.1:n.*1362C>G
ENST00000674884.1:c.2465C>G	ENSP00000502668.1:p.Ser822Cys
ENST00000674930.1:c.*1572C>G	ENSP00000502657.1:n.*1572C>G
ENST00000674933.1:c.2216C>G	ENSP00000502376.1:p.Ser739Cys
ENST00000674956.1:c.*1661C>G	ENSP00000501904.1:n.*1661C>G
ENST00000675004.1:c.*2399C>G	ENSP00000501868.1:n.*2399C>G
ENST00000675009.1:c.*1831C>G	ENSP00000502098.1:n.*1831C>G
ENST00000675096.1:c.2240C>G	ENSP00000502116.1:p.Ser747Cys
ENST00000675122.1:c.*554C>G	ENSP00000501810.1:n.*554C>G
ENST00000675153.1:c.*1164C>G	ENSP00000501682.1:n.*1164C>G
ENST00000675254.1:n.3906C>G
ENST00000675272.1:n.6745C>G
ENST00000675284.1:c.2447C>G	ENSP00000502758.1:p.Ser816Cys
ENST00000675301.1:n.1104C>G
ENST00000675311.1:c.*1649C>G	ENSP00000501961.1:n.*1649C>G
ENST00000675426.1:c.*1515C>G	ENSP00000501819.1:n.*1515C>G
ENST00000675523.1:c.2216C>G	ENSP00000502384.1:p.Ser739Cys
ENST00000675552.1:c.*4710C>G	ENSP00000502197.1:n.*4710C>G
ENST00000675726.1:c.2447C>G	ENSP00000502452.1:p.Ser816Cys
ENST00000675772.1:c.2447C>G	ENSP00000501678.1:p.Ser816Cys
ENST00000675831.1:c.2054C>G	ENSP00000502382.1:p.Ser685Cys
ENST00000675849.1:n.2069C>G
ENST00000675879.1:c.1292C>G
ENST00000675954.1:n.3780C>G
ENST00000675991.1:c.*4274C>G	ENSP00000502162.1:n.*4274C>G
ENST00000675994.1:c.*1586C>G	ENSP00000502419.1:n.*1586C>G
ENST00000676021.1:c.*1025C>G	ENSP00000502746.1:n.*1025C>G
ENST00000676037.1:c.*374C>G	ENSP00000502181.1:n.*374C>G
ENST00000676136.1:n.5094C>G
ENST00000676246.1:n.337C>G
ENST00000676442.1:c.2318C>G	ENSP00000502595.1:p.Ser773Cys
ENST00000230124.7:c.2447C>G	ENSP00000230124.3:p.Ser816Cys
NM_014845.5:c.2447C>G , LRG_241t1:c.2447C>G	NP_055660.1:p.Ser816Cys
XM_011536281.1:c.2384C>G	XP_011534583.1:p.Ser795Cys
XM_011536281.3:c.2384C>G	XP_011534583.1:p.Ser795Cys
XM_017011592.1:c.1898C>G	XP_016867081.1:p.Ser633Cys
XM_017011593.2:c.1517C>G	XP_016867082.1:p.Ser506Cys
NM_014845.6:c.2447C>G MANE Select	NP_055660.1:p.Ser816Cys