Canonical Allele Identifier: CA365217975

Gene: FIG4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2458A>T MANE Select	ENSP00000230124.4:p.Arg820Ter
ENST00000415980.2:c.964A>T	ENSP00000405660.2:p.Arg322Ter
ENST00000419951.2:n.806A>T
ENST00000674532.1:n.5654A>T
ENST00000674557.1:c.*1751A>T	ENSP00000501608.1:n.*1751A>T
ENST00000674569.1:c.*1577A>T	ENSP00000502769.1:n.*1577A>T
ENST00000674571.1:c.*1577A>T	ENSP00000501633.1:n.*1577A>T
ENST00000674575.1:c.*1577A>T	ENSP00000502276.1:n.*1577A>T
ENST00000674641.1:c.2113A>T	ENSP00000501609.1:p.Arg705Ter
ENST00000674649.1:c.*2151A>T	ENSP00000501669.1:n.*2151A>T
ENST00000674657.1:c.*1890A>T	ENSP00000502314.1:n.*1890A>T
ENST00000674744.1:c.2452A>T	ENSP00000501661.1:p.Arg818Ter
ENST00000674778.1:c.*1676A>T	ENSP00000502742.1:n.*1676A>T
ENST00000674783.1:c.*1373A>T	ENSP00000502755.1:n.*1373A>T
ENST00000674884.1:c.2476A>T	ENSP00000502668.1:p.Arg826Ter
ENST00000674930.1:c.*1583A>T	ENSP00000502657.1:n.*1583A>T
ENST00000674933.1:c.2227A>T	ENSP00000502376.1:p.Arg743Ter
ENST00000674956.1:c.*1672A>T	ENSP00000501904.1:n.*1672A>T
ENST00000675004.1:c.*2410A>T	ENSP00000501868.1:n.*2410A>T
ENST00000675009.1:c.*1842A>T	ENSP00000502098.1:n.*1842A>T
ENST00000675096.1:c.2251A>T	ENSP00000502116.1:p.Arg751Ter
ENST00000675122.1:c.*565A>T	ENSP00000501810.1:n.*565A>T
ENST00000675153.1:c.*1175A>T	ENSP00000501682.1:n.*1175A>T
ENST00000675254.1:n.3917A>T
ENST00000675272.1:n.6756A>T
ENST00000675284.1:c.2458A>T	ENSP00000502758.1:p.Arg820Ter
ENST00000675301.1:n.1115A>T
ENST00000675311.1:c.*1660A>T	ENSP00000501961.1:n.*1660A>T
ENST00000675426.1:c.*1526A>T	ENSP00000501819.1:n.*1526A>T
ENST00000675523.1:c.2227A>T	ENSP00000502384.1:p.Arg743Ter
ENST00000675552.1:c.*4721A>T	ENSP00000502197.1:n.*4721A>T
ENST00000675726.1:c.2458A>T	ENSP00000502452.1:p.Arg820Ter
ENST00000675772.1:c.2458A>T	ENSP00000501678.1:p.Arg820Ter
ENST00000675831.1:c.2065A>T	ENSP00000502382.1:p.Arg689Ter
ENST00000675849.1:n.2080A>T
ENST00000675879.1:c.1303A>T
ENST00000675954.1:n.3791A>T
ENST00000675991.1:c.*4285A>T	ENSP00000502162.1:n.*4285A>T
ENST00000675994.1:c.*1597A>T	ENSP00000502419.1:n.*1597A>T
ENST00000676021.1:c.*1036A>T	ENSP00000502746.1:n.*1036A>T
ENST00000676037.1:c.*385A>T	ENSP00000502181.1:n.*385A>T
ENST00000676136.1:n.5105A>T
ENST00000676246.1:n.348A>T
ENST00000676442.1:c.2329A>T	ENSP00000502595.1:p.Arg777Ter
ENST00000230124.7:c.2458A>T	ENSP00000230124.3:p.Arg820Ter
NM_014845.5:c.2458A>T , LRG_241t1:c.2458A>T	NP_055660.1:p.Arg820Ter
XM_011536281.1:c.2395A>T	XP_011534583.1:p.Arg799Ter
XM_011536281.3:c.2395A>T	XP_011534583.1:p.Arg799Ter
XM_017011592.1:c.1909A>T	XP_016867081.1:p.Arg637Ter
XM_017011593.2:c.1528A>T	XP_016867082.1:p.Arg510Ter
NM_014845.6:c.2458A>T MANE Select	NP_055660.1:p.Arg820Ter