Canonical Allele Identifier: CA10584275

Gene: FIG4

Linked Data

• ClinVar Variation Id: 245747
• ClinVar RCV Id: RCV000236745 ; RCV001857797 ; RCV003447128
• dbSNP Id: rs879253926
• MyVariant Identifiers: chr6:g.110081522C>T (hg19) ; chr6:g.109760319C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109760319C>T , CM000668.2:g.109760319C>T	GRCh38
NC_000006.11:g.110081522C>T , CM000668.1:g.110081522C>T	GRCh37
NC_000006.10:g.110188215C>T	NCBI36
NG_007977.1:g.74099C>T , LRG_241:g.74099C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.1207C>T MANE Select	ENSP00000230124.4:p.Gln403Ter
ENST00000415980.2:c.-223-1772C>T	ENSP00000405660.2:n.-223-1772C>T
ENST00000674532.1:n.4403C>T
ENST00000674557.1:c.*639C>T	ENSP00000501608.1:n.*639C>T
ENST00000674569.1:c.*326C>T	ENSP00000502769.1:n.*326C>T
ENST00000674571.1:c.*326C>T	ENSP00000501633.1:n.*326C>T
ENST00000674575.1:c.*326C>T	ENSP00000502276.1:n.*326C>T
ENST00000674641.1:c.862C>T	ENSP00000501609.1:p.Gln288Ter
ENST00000674644.1:c.277C>T	ENSP00000502201.1:p.Gln93Ter
ENST00000674649.1:c.*900C>T	ENSP00000501669.1:n.*900C>T
ENST00000674657.1:c.*639C>T	ENSP00000502314.1:n.*639C>T
ENST00000674744.1:c.1201C>T	ENSP00000501661.1:p.Gln401Ter
ENST00000674778.1:c.*326C>T	ENSP00000502742.1:n.*326C>T
ENST00000674783.1:c.*122C>T	ENSP00000502755.1:n.*122C>T
ENST00000674830.1:n.1178C>T
ENST00000674884.1:c.1225C>T	ENSP00000502668.1:p.Gln409Ter
ENST00000674930.1:c.*332C>T	ENSP00000502657.1:n.*332C>T
ENST00000674933.1:c.976C>T	ENSP00000502376.1:p.Gln326Ter
ENST00000674956.1:c.*421C>T	ENSP00000501904.1:n.*421C>T
ENST00000675004.1:c.*1159C>T	ENSP00000501868.1:n.*1159C>T
ENST00000675009.1:c.*656-1772C>T	ENSP00000502098.1:n.*656-1772C>T
ENST00000675096.1:c.1207C>T	ENSP00000502116.1:p.Gln403Ter
ENST00000675122.1:c.1207C>T	ENSP00000501810.1:p.Gln403Ter
ENST00000675153.1:c.1138-1772C>T	ENSP00000501682.1:n.1138-1772C>T
ENST00000675272.1:n.5505C>T
ENST00000675284.1:c.1207C>T	ENSP00000502758.1:p.Gln403Ter
ENST00000675311.1:c.*409C>T	ENSP00000501961.1:n.*409C>T
ENST00000675426.1:c.*340-1772C>T	ENSP00000501819.1:n.*340-1772C>T
ENST00000675516.1:n.438C>T
ENST00000675523.1:c.976C>T	ENSP00000502384.1:p.Gln326Ter
ENST00000675552.1:c.*326C>T	ENSP00000502197.1:n.*326C>T
ENST00000675681.1:c.1207C>T	ENSP00000502705.1:p.Gln403Ter
ENST00000675714.1:c.1207C>T	ENSP00000502561.1:p.Gln403Ter
ENST00000675726.1:c.1207C>T	ENSP00000502452.1:p.Gln403Ter
ENST00000675772.1:c.1207C>T	ENSP00000501678.1:p.Gln403Ter
ENST00000675831.1:c.814C>T	ENSP00000502382.1:p.Gln272Ter
ENST00000675847.1:n.1331C>T
ENST00000675887.1:c.*810C>T	ENSP00000502123.1:n.*810C>T
ENST00000675973.1:c.1078C>T	ENSP00000502407.1:p.Gln360Ter
ENST00000675991.1:c.*326C>T	ENSP00000502162.1:n.*326C>T
ENST00000675994.1:c.*326C>T	ENSP00000502419.1:n.*326C>T
ENST00000676021.1:c.1138-1772C>T	ENSP00000502746.1:n.1138-1772C>T
ENST00000676037.1:c.1207C>T	ENSP00000502181.1:p.Gln403Ter
ENST00000676136.1:n.1347C>T
ENST00000676442.1:c.1078C>T	ENSP00000502595.1:p.Gln360Ter
ENST00000230124.7:c.1207C>T	ENSP00000230124.3:p.Gln403Ter
NM_014845.5:c.1207C>T , LRG_241t1:c.1207C>T	NP_055660.1:p.Gln403Ter
XM_011536281.1:c.1144C>T	XP_011534583.1:p.Gln382Ter
XM_011536281.3:c.1144C>T	XP_011534583.1:p.Gln382Ter
XM_017011591.2:c.1207C>T	XP_016867080.1:p.Gln403Ter
XM_017011592.1:c.658C>T	XP_016867081.1:p.Gln220Ter
XM_017011593.2:c.277C>T	XP_016867082.1:p.Gln93Ter
NM_014845.6:c.1207C>T MANE Select	NP_055660.1:p.Gln403Ter