Canonical Allele Identifier: CA451754592

Gene: FIG4

Linked Data

• MyVariant Identifiers: chr6:g.110113859T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792656T>A , CM000668.2:g.109792656T>A	GRCh38
NC_000006.11:g.110113859T>A , CM000668.1:g.110113859T>A	GRCh37
NC_000006.10:g.110220552T>A	NCBI36
NG_007977.1:g.106436T>A , LRG_241:g.106436T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2451T>A MANE Select	ENSP00000230124.4:p.Ile817=
ENST00000415980.2:c.957T>A	ENSP00000405660.2:p.Ile319=
ENST00000419951.2:n.799T>A
ENST00000674532.1:n.5647T>A
ENST00000674557.1:c.*1744T>A	ENSP00000501608.1:n.*1744T>A
ENST00000674569.1:c.*1570T>A	ENSP00000502769.1:n.*1570T>A
ENST00000674571.1:c.*1570T>A	ENSP00000501633.1:n.*1570T>A
ENST00000674575.1:c.*1570T>A	ENSP00000502276.1:n.*1570T>A
ENST00000674641.1:c.2106T>A	ENSP00000501609.1:p.Ile702=
ENST00000674649.1:c.*2144T>A	ENSP00000501669.1:n.*2144T>A
ENST00000674657.1:c.*1883T>A	ENSP00000502314.1:n.*1883T>A
ENST00000674744.1:c.2445T>A	ENSP00000501661.1:p.Ile815=
ENST00000674778.1:c.*1669T>A	ENSP00000502742.1:n.*1669T>A
ENST00000674783.1:c.*1366T>A	ENSP00000502755.1:n.*1366T>A
ENST00000674884.1:c.2469T>A	ENSP00000502668.1:p.Ile823=
ENST00000674930.1:c.*1576T>A	ENSP00000502657.1:n.*1576T>A
ENST00000674933.1:c.2220T>A	ENSP00000502376.1:p.Ile740=
ENST00000674956.1:c.*1665T>A	ENSP00000501904.1:n.*1665T>A
ENST00000675004.1:c.*2403T>A	ENSP00000501868.1:n.*2403T>A
ENST00000675009.1:c.*1835T>A	ENSP00000502098.1:n.*1835T>A
ENST00000675096.1:c.2244T>A	ENSP00000502116.1:p.Ile748=
ENST00000675122.1:c.*558T>A	ENSP00000501810.1:n.*558T>A
ENST00000675153.1:c.*1168T>A	ENSP00000501682.1:n.*1168T>A
ENST00000675254.1:n.3910T>A
ENST00000675272.1:n.6749T>A
ENST00000675284.1:c.2451T>A	ENSP00000502758.1:p.Ile817=
ENST00000675301.1:n.1108T>A
ENST00000675311.1:c.*1653T>A	ENSP00000501961.1:n.*1653T>A
ENST00000675426.1:c.*1519T>A	ENSP00000501819.1:n.*1519T>A
ENST00000675523.1:c.2220T>A	ENSP00000502384.1:p.Ile740=
ENST00000675552.1:c.*4714T>A	ENSP00000502197.1:n.*4714T>A
ENST00000675726.1:c.2451T>A	ENSP00000502452.1:p.Ile817=
ENST00000675772.1:c.2451T>A	ENSP00000501678.1:p.Ile817=
ENST00000675831.1:c.2058T>A	ENSP00000502382.1:p.Ile686=
ENST00000675849.1:n.2073T>A
ENST00000675879.1:c.1296T>A
ENST00000675954.1:n.3784T>A
ENST00000675991.1:c.*4278T>A	ENSP00000502162.1:n.*4278T>A
ENST00000675994.1:c.*1590T>A	ENSP00000502419.1:n.*1590T>A
ENST00000676021.1:c.*1029T>A	ENSP00000502746.1:n.*1029T>A
ENST00000676037.1:c.*378T>A	ENSP00000502181.1:n.*378T>A
ENST00000676136.1:n.5098T>A
ENST00000676246.1:n.341T>A
ENST00000676442.1:c.2322T>A	ENSP00000502595.1:p.Ile774=
ENST00000230124.7:c.2451T>A	ENSP00000230124.3:p.Ile817=
NM_014845.5:c.2451T>A , LRG_241t1:c.2451T>A	NP_055660.1:p.Ile817=
XM_011536281.1:c.2388T>A	XP_011534583.1:p.Ile796=
XM_011536281.3:c.2388T>A	XP_011534583.1:p.Ile796=
XM_017011592.1:c.1902T>A	XP_016867081.1:p.Ile634=
XM_017011593.2:c.1521T>A	XP_016867082.1:p.Ile507=
NM_014845.6:c.2451T>A MANE Select	NP_055660.1:p.Ile817=