Canonical Allele Identifier: CA365217885

Gene: FIG4

Linked Data

• ClinVar Variation Id: 1713386
• ClinVar RCV Id: RCV002295424 ; RCV002443297
• MyVariant Identifiers: chr6:g.110113853C>G (hg19) ; chr6:g.109792650C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792650C>G , CM000668.2:g.109792650C>G	GRCh38
NC_000006.11:g.110113853C>G , CM000668.1:g.110113853C>G	GRCh37
NC_000006.10:g.110220546C>G	NCBI36
NG_007977.1:g.106430C>G , LRG_241:g.106430C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2445C>G MANE Select	ENSP00000230124.4:p.Phe815Leu
ENST00000415980.2:c.951C>G	ENSP00000405660.2:p.Phe317Leu
ENST00000419951.2:n.793C>G
ENST00000674532.1:n.5641C>G
ENST00000674557.1:c.*1738C>G	ENSP00000501608.1:n.*1738C>G
ENST00000674569.1:c.*1564C>G	ENSP00000502769.1:n.*1564C>G
ENST00000674571.1:c.*1564C>G	ENSP00000501633.1:n.*1564C>G
ENST00000674575.1:c.*1564C>G	ENSP00000502276.1:n.*1564C>G
ENST00000674641.1:c.2100C>G	ENSP00000501609.1:p.Phe700Leu
ENST00000674649.1:c.*2138C>G	ENSP00000501669.1:n.*2138C>G
ENST00000674657.1:c.*1877C>G	ENSP00000502314.1:n.*1877C>G
ENST00000674744.1:c.2439C>G	ENSP00000501661.1:p.Phe813Leu
ENST00000674778.1:c.*1663C>G	ENSP00000502742.1:n.*1663C>G
ENST00000674783.1:c.*1360C>G	ENSP00000502755.1:n.*1360C>G
ENST00000674884.1:c.2463C>G	ENSP00000502668.1:p.Phe821Leu
ENST00000674930.1:c.*1570C>G	ENSP00000502657.1:n.*1570C>G
ENST00000674933.1:c.2214C>G	ENSP00000502376.1:p.Phe738Leu
ENST00000674956.1:c.*1659C>G	ENSP00000501904.1:n.*1659C>G
ENST00000675004.1:c.*2397C>G	ENSP00000501868.1:n.*2397C>G
ENST00000675009.1:c.*1829C>G	ENSP00000502098.1:n.*1829C>G
ENST00000675096.1:c.2238C>G	ENSP00000502116.1:p.Phe746Leu
ENST00000675122.1:c.*552C>G	ENSP00000501810.1:n.*552C>G
ENST00000675153.1:c.*1162C>G	ENSP00000501682.1:n.*1162C>G
ENST00000675254.1:n.3904C>G
ENST00000675272.1:n.6743C>G
ENST00000675284.1:c.2445C>G	ENSP00000502758.1:p.Phe815Leu
ENST00000675301.1:n.1102C>G
ENST00000675311.1:c.*1647C>G	ENSP00000501961.1:n.*1647C>G
ENST00000675426.1:c.*1513C>G	ENSP00000501819.1:n.*1513C>G
ENST00000675523.1:c.2214C>G	ENSP00000502384.1:p.Phe738Leu
ENST00000675552.1:c.*4708C>G	ENSP00000502197.1:n.*4708C>G
ENST00000675726.1:c.2445C>G	ENSP00000502452.1:p.Phe815Leu
ENST00000675772.1:c.2445C>G	ENSP00000501678.1:p.Phe815Leu
ENST00000675831.1:c.2052C>G	ENSP00000502382.1:p.Phe684Leu
ENST00000675849.1:n.2067C>G
ENST00000675879.1:c.1290C>G
ENST00000675954.1:n.3778C>G
ENST00000675991.1:c.*4272C>G	ENSP00000502162.1:n.*4272C>G
ENST00000675994.1:c.*1584C>G	ENSP00000502419.1:n.*1584C>G
ENST00000676021.1:c.*1023C>G	ENSP00000502746.1:n.*1023C>G
ENST00000676037.1:c.*372C>G	ENSP00000502181.1:n.*372C>G
ENST00000676136.1:n.5092C>G
ENST00000676246.1:n.335C>G
ENST00000676442.1:c.2316C>G	ENSP00000502595.1:p.Phe772Leu
ENST00000230124.7:c.2445C>G	ENSP00000230124.3:p.Phe815Leu
NM_014845.5:c.2445C>G , LRG_241t1:c.2445C>G	NP_055660.1:p.Phe815Leu
XM_011536281.1:c.2382C>G	XP_011534583.1:p.Phe794Leu
XM_011536281.3:c.2382C>G	XP_011534583.1:p.Phe794Leu
XM_017011592.1:c.1896C>G	XP_016867081.1:p.Phe632Leu
XM_017011593.2:c.1515C>G	XP_016867082.1:p.Phe505Leu
NM_014845.6:c.2445C>G MANE Select	NP_055660.1:p.Phe815Leu