Canonical Allele Identifier: CA365217095

Gene: FIG4

Linked Data

• MyVariant Identifiers: chr6:g.110113791G>C (hg19) ; chr6:g.109792588G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792588G>C , CM000668.2:g.109792588G>C	GRCh38
NC_000006.11:g.110113791G>C , CM000668.1:g.110113791G>C	GRCh37
NC_000006.10:g.110220484G>C	NCBI36
NG_007977.1:g.106368G>C , LRG_241:g.106368G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2383G>C MANE Select	ENSP00000230124.4:p.Val795Leu
ENST00000415980.2:c.889G>C	ENSP00000405660.2:p.Val297Leu
ENST00000419951.2:n.731G>C
ENST00000674532.1:n.5579G>C
ENST00000674557.1:c.*1676G>C	ENSP00000501608.1:n.*1676G>C
ENST00000674569.1:c.*1502G>C	ENSP00000502769.1:n.*1502G>C
ENST00000674571.1:c.*1502G>C	ENSP00000501633.1:n.*1502G>C
ENST00000674575.1:c.*1502G>C	ENSP00000502276.1:n.*1502G>C
ENST00000674641.1:c.2038G>C	ENSP00000501609.1:p.Val680Leu
ENST00000674644.1:c.1453G>C	ENSP00000502201.1:p.Val485Leu
ENST00000674649.1:c.*2076G>C	ENSP00000501669.1:n.*2076G>C
ENST00000674657.1:c.*1815G>C	ENSP00000502314.1:n.*1815G>C
ENST00000674744.1:c.2377G>C	ENSP00000501661.1:p.Val793Leu
ENST00000674778.1:c.*1601G>C	ENSP00000502742.1:n.*1601G>C
ENST00000674783.1:c.*1298G>C	ENSP00000502755.1:n.*1298G>C
ENST00000674884.1:c.2401G>C	ENSP00000502668.1:p.Val801Leu
ENST00000674930.1:c.*1508G>C	ENSP00000502657.1:n.*1508G>C
ENST00000674933.1:c.2152G>C	ENSP00000502376.1:p.Val718Leu
ENST00000674956.1:c.*1597G>C	ENSP00000501904.1:n.*1597G>C
ENST00000675004.1:c.*2335G>C	ENSP00000501868.1:n.*2335G>C
ENST00000675009.1:c.*1767G>C	ENSP00000502098.1:n.*1767G>C
ENST00000675096.1:c.2176G>C	ENSP00000502116.1:p.Val726Leu
ENST00000675122.1:c.*490G>C	ENSP00000501810.1:n.*490G>C
ENST00000675153.1:c.*1100G>C	ENSP00000501682.1:n.*1100G>C
ENST00000675254.1:n.3842G>C
ENST00000675272.1:n.6681G>C
ENST00000675284.1:c.2383G>C	ENSP00000502758.1:p.Val795Leu
ENST00000675301.1:n.1040G>C
ENST00000675311.1:c.*1585G>C	ENSP00000501961.1:n.*1585G>C
ENST00000675426.1:c.*1451G>C	ENSP00000501819.1:n.*1451G>C
ENST00000675523.1:c.2152G>C	ENSP00000502384.1:p.Val718Leu
ENST00000675552.1:c.*4646G>C	ENSP00000502197.1:n.*4646G>C
ENST00000675726.1:c.2383G>C	ENSP00000502452.1:p.Val795Leu
ENST00000675772.1:c.2383G>C	ENSP00000501678.1:p.Val795Leu
ENST00000675831.1:c.1990G>C	ENSP00000502382.1:p.Val664Leu
ENST00000675849.1:n.2005G>C
ENST00000675879.1:c.1228G>C
ENST00000675887.1:c.*1986G>C	ENSP00000502123.1:n.*1986G>C
ENST00000675954.1:n.3716G>C
ENST00000675991.1:c.*4210G>C	ENSP00000502162.1:n.*4210G>C
ENST00000675994.1:c.*1522G>C	ENSP00000502419.1:n.*1522G>C
ENST00000676021.1:c.*961G>C	ENSP00000502746.1:n.*961G>C
ENST00000676037.1:c.*310G>C	ENSP00000502181.1:n.*310G>C
ENST00000676136.1:n.5030G>C
ENST00000676246.1:n.273G>C
ENST00000676442.1:c.2254G>C	ENSP00000502595.1:p.Val752Leu
ENST00000230124.7:c.2383G>C	ENSP00000230124.3:p.Val795Leu
NM_014845.5:c.2383G>C , LRG_241t1:c.2383G>C	NP_055660.1:p.Val795Leu
XM_011536281.1:c.2320G>C	XP_011534583.1:p.Val774Leu
XM_011536281.3:c.2320G>C	XP_011534583.1:p.Val774Leu
XM_017011592.1:c.1834G>C	XP_016867081.1:p.Val612Leu
XM_017011593.2:c.1453G>C	XP_016867082.1:p.Val485Leu
NM_014845.6:c.2383G>C MANE Select	NP_055660.1:p.Val795Leu