Canonical Allele Identifier: CA365217978

Gene: FIG4

Linked Data

• COSMIC: COSM3828787
• MyVariant Identifiers: chr6:g.110113866A>G (hg19) ; chr6:g.109792663A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792663A>G , CM000668.2:g.109792663A>G	GRCh38
NC_000006.11:g.110113866A>G , CM000668.1:g.110113866A>G	GRCh37
NC_000006.10:g.110220559A>G	NCBI36
NG_007977.1:g.106443A>G , LRG_241:g.106443A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.2458A>G MANE Select	ENSP00000230124.4:p.Arg820Gly
ENST00000415980.2:c.964A>G	ENSP00000405660.2:p.Arg322Gly
ENST00000419951.2:n.806A>G
ENST00000674532.1:n.5654A>G
ENST00000674557.1:c.*1751A>G	ENSP00000501608.1:n.*1751A>G
ENST00000674569.1:c.*1577A>G	ENSP00000502769.1:n.*1577A>G
ENST00000674571.1:c.*1577A>G	ENSP00000501633.1:n.*1577A>G
ENST00000674575.1:c.*1577A>G	ENSP00000502276.1:n.*1577A>G
ENST00000674641.1:c.2113A>G	ENSP00000501609.1:p.Arg705Gly
ENST00000674649.1:c.*2151A>G	ENSP00000501669.1:n.*2151A>G
ENST00000674657.1:c.*1890A>G	ENSP00000502314.1:n.*1890A>G
ENST00000674744.1:c.2452A>G	ENSP00000501661.1:p.Arg818Gly
ENST00000674778.1:c.*1676A>G	ENSP00000502742.1:n.*1676A>G
ENST00000674783.1:c.*1373A>G	ENSP00000502755.1:n.*1373A>G
ENST00000674884.1:c.2476A>G	ENSP00000502668.1:p.Arg826Gly
ENST00000674930.1:c.*1583A>G	ENSP00000502657.1:n.*1583A>G
ENST00000674933.1:c.2227A>G	ENSP00000502376.1:p.Arg743Gly
ENST00000674956.1:c.*1672A>G	ENSP00000501904.1:n.*1672A>G
ENST00000675004.1:c.*2410A>G	ENSP00000501868.1:n.*2410A>G
ENST00000675009.1:c.*1842A>G	ENSP00000502098.1:n.*1842A>G
ENST00000675096.1:c.2251A>G	ENSP00000502116.1:p.Arg751Gly
ENST00000675122.1:c.*565A>G	ENSP00000501810.1:n.*565A>G
ENST00000675153.1:c.*1175A>G	ENSP00000501682.1:n.*1175A>G
ENST00000675254.1:n.3917A>G
ENST00000675272.1:n.6756A>G
ENST00000675284.1:c.2458A>G	ENSP00000502758.1:p.Arg820Gly
ENST00000675301.1:n.1115A>G
ENST00000675311.1:c.*1660A>G	ENSP00000501961.1:n.*1660A>G
ENST00000675426.1:c.*1526A>G	ENSP00000501819.1:n.*1526A>G
ENST00000675523.1:c.2227A>G	ENSP00000502384.1:p.Arg743Gly
ENST00000675552.1:c.*4721A>G	ENSP00000502197.1:n.*4721A>G
ENST00000675726.1:c.2458A>G	ENSP00000502452.1:p.Arg820Gly
ENST00000675772.1:c.2458A>G	ENSP00000501678.1:p.Arg820Gly
ENST00000675831.1:c.2065A>G	ENSP00000502382.1:p.Arg689Gly
ENST00000675849.1:n.2080A>G
ENST00000675879.1:c.1303A>G
ENST00000675954.1:n.3791A>G
ENST00000675991.1:c.*4285A>G	ENSP00000502162.1:n.*4285A>G
ENST00000675994.1:c.*1597A>G	ENSP00000502419.1:n.*1597A>G
ENST00000676021.1:c.*1036A>G	ENSP00000502746.1:n.*1036A>G
ENST00000676037.1:c.*385A>G	ENSP00000502181.1:n.*385A>G
ENST00000676136.1:n.5105A>G
ENST00000676246.1:n.348A>G
ENST00000676442.1:c.2329A>G	ENSP00000502595.1:p.Arg777Gly
ENST00000230124.7:c.2458A>G	ENSP00000230124.3:p.Arg820Gly
NM_014845.5:c.2458A>G , LRG_241t1:c.2458A>G	NP_055660.1:p.Arg820Gly
XM_011536281.1:c.2395A>G	XP_011534583.1:p.Arg799Gly
XM_011536281.3:c.2395A>G	XP_011534583.1:p.Arg799Gly
XM_017011592.1:c.1909A>G	XP_016867081.1:p.Arg637Gly
XM_017011593.2:c.1528A>G	XP_016867082.1:p.Arg510Gly
NM_014845.6:c.2458A>G MANE Select	NP_055660.1:p.Arg820Gly