Canonical Allele Identifier: CA365217869

Gene: FIG4

Linked Data

• dbSNP Id: rs1406213877
• MyVariant Identifiers: chr6:g.110113851T>G (hg19) ; chr6:g.109792648T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792648T>G , CM000668.2:g.109792648T>G	GRCh38
NC_000006.11:g.110113851T>G , CM000668.1:g.110113851T>G	GRCh37
NC_000006.10:g.110220544T>G	NCBI36
NG_007977.1:g.106428T>G , LRG_241:g.106428T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2443T>G MANE Select	ENSP00000230124.4:p.Phe815Val
ENST00000415980.2:c.949T>G	ENSP00000405660.2:p.Phe317Val
ENST00000419951.2:n.791T>G
ENST00000674532.1:n.5639T>G
ENST00000674557.1:c.*1736T>G	ENSP00000501608.1:n.*1736T>G
ENST00000674569.1:c.*1562T>G	ENSP00000502769.1:n.*1562T>G
ENST00000674571.1:c.*1562T>G	ENSP00000501633.1:n.*1562T>G
ENST00000674575.1:c.*1562T>G	ENSP00000502276.1:n.*1562T>G
ENST00000674641.1:c.2098T>G	ENSP00000501609.1:p.Phe700Val
ENST00000674649.1:c.*2136T>G	ENSP00000501669.1:n.*2136T>G
ENST00000674657.1:c.*1875T>G	ENSP00000502314.1:n.*1875T>G
ENST00000674744.1:c.2437T>G	ENSP00000501661.1:p.Phe813Val
ENST00000674778.1:c.*1661T>G	ENSP00000502742.1:n.*1661T>G
ENST00000674783.1:c.*1358T>G	ENSP00000502755.1:n.*1358T>G
ENST00000674884.1:c.2461T>G	ENSP00000502668.1:p.Phe821Val
ENST00000674930.1:c.*1568T>G	ENSP00000502657.1:n.*1568T>G
ENST00000674933.1:c.2212T>G	ENSP00000502376.1:p.Phe738Val
ENST00000674956.1:c.*1657T>G	ENSP00000501904.1:n.*1657T>G
ENST00000675004.1:c.*2395T>G	ENSP00000501868.1:n.*2395T>G
ENST00000675009.1:c.*1827T>G	ENSP00000502098.1:n.*1827T>G
ENST00000675096.1:c.2236T>G	ENSP00000502116.1:p.Phe746Val
ENST00000675122.1:c.*550T>G	ENSP00000501810.1:n.*550T>G
ENST00000675153.1:c.*1160T>G	ENSP00000501682.1:n.*1160T>G
ENST00000675254.1:n.3902T>G
ENST00000675272.1:n.6741T>G
ENST00000675284.1:c.2443T>G	ENSP00000502758.1:p.Phe815Val
ENST00000675301.1:n.1100T>G
ENST00000675311.1:c.*1645T>G	ENSP00000501961.1:n.*1645T>G
ENST00000675426.1:c.*1511T>G	ENSP00000501819.1:n.*1511T>G
ENST00000675523.1:c.2212T>G	ENSP00000502384.1:p.Phe738Val
ENST00000675552.1:c.*4706T>G	ENSP00000502197.1:n.*4706T>G
ENST00000675726.1:c.2443T>G	ENSP00000502452.1:p.Phe815Val
ENST00000675772.1:c.2443T>G	ENSP00000501678.1:p.Phe815Val
ENST00000675831.1:c.2050T>G	ENSP00000502382.1:p.Phe684Val
ENST00000675849.1:n.2065T>G
ENST00000675879.1:c.1288T>G
ENST00000675954.1:n.3776T>G
ENST00000675991.1:c.*4270T>G	ENSP00000502162.1:n.*4270T>G
ENST00000675994.1:c.*1582T>G	ENSP00000502419.1:n.*1582T>G
ENST00000676021.1:c.*1021T>G	ENSP00000502746.1:n.*1021T>G
ENST00000676037.1:c.*370T>G	ENSP00000502181.1:n.*370T>G
ENST00000676136.1:n.5090T>G
ENST00000676246.1:n.333T>G
ENST00000676442.1:c.2314T>G	ENSP00000502595.1:p.Phe772Val
ENST00000230124.7:c.2443T>G	ENSP00000230124.3:p.Phe815Val
NM_014845.5:c.2443T>G , LRG_241t1:c.2443T>G	NP_055660.1:p.Phe815Val
XM_011536281.1:c.2380T>G	XP_011534583.1:p.Phe794Val
XM_011536281.3:c.2380T>G	XP_011534583.1:p.Phe794Val
XM_017011592.1:c.1894T>G	XP_016867081.1:p.Phe632Val
XM_017011593.2:c.1513T>G	XP_016867082.1:p.Phe505Val
NM_014845.6:c.2443T>G MANE Select	NP_055660.1:p.Phe815Val