Canonical Allele Identifier: CA365217945

Gene: FIG4

Linked Data

• gnomAD v4: 6-109792658-A-G
• MyVariant Identifiers: chr6:g.110113861A>G (hg19) ; chr6:g.109792658A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792658A>G , CM000668.2:g.109792658A>G	GRCh38
NC_000006.11:g.110113861A>G , CM000668.1:g.110113861A>G	GRCh37
NC_000006.10:g.110220554A>G	NCBI36
NG_007977.1:g.106438A>G , LRG_241:g.106438A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2453A>G MANE Select	ENSP00000230124.4:p.Tyr818Cys
ENST00000415980.2:c.959A>G	ENSP00000405660.2:p.Tyr320Cys
ENST00000419951.2:n.801A>G
ENST00000674532.1:n.5649A>G
ENST00000674557.1:c.*1746A>G	ENSP00000501608.1:n.*1746A>G
ENST00000674569.1:c.*1572A>G	ENSP00000502769.1:n.*1572A>G
ENST00000674571.1:c.*1572A>G	ENSP00000501633.1:n.*1572A>G
ENST00000674575.1:c.*1572A>G	ENSP00000502276.1:n.*1572A>G
ENST00000674641.1:c.2108A>G	ENSP00000501609.1:p.Tyr703Cys
ENST00000674649.1:c.*2146A>G	ENSP00000501669.1:n.*2146A>G
ENST00000674657.1:c.*1885A>G	ENSP00000502314.1:n.*1885A>G
ENST00000674744.1:c.2447A>G	ENSP00000501661.1:p.Tyr816Cys
ENST00000674778.1:c.*1671A>G	ENSP00000502742.1:n.*1671A>G
ENST00000674783.1:c.*1368A>G	ENSP00000502755.1:n.*1368A>G
ENST00000674884.1:c.2471A>G	ENSP00000502668.1:p.Tyr824Cys
ENST00000674930.1:c.*1578A>G	ENSP00000502657.1:n.*1578A>G
ENST00000674933.1:c.2222A>G	ENSP00000502376.1:p.Tyr741Cys
ENST00000674956.1:c.*1667A>G	ENSP00000501904.1:n.*1667A>G
ENST00000675004.1:c.*2405A>G	ENSP00000501868.1:n.*2405A>G
ENST00000675009.1:c.*1837A>G	ENSP00000502098.1:n.*1837A>G
ENST00000675096.1:c.2246A>G	ENSP00000502116.1:p.Tyr749Cys
ENST00000675122.1:c.*560A>G	ENSP00000501810.1:n.*560A>G
ENST00000675153.1:c.*1170A>G	ENSP00000501682.1:n.*1170A>G
ENST00000675254.1:n.3912A>G
ENST00000675272.1:n.6751A>G
ENST00000675284.1:c.2453A>G	ENSP00000502758.1:p.Tyr818Cys
ENST00000675301.1:n.1110A>G
ENST00000675311.1:c.*1655A>G	ENSP00000501961.1:n.*1655A>G
ENST00000675426.1:c.*1521A>G	ENSP00000501819.1:n.*1521A>G
ENST00000675523.1:c.2222A>G	ENSP00000502384.1:p.Tyr741Cys
ENST00000675552.1:c.*4716A>G	ENSP00000502197.1:n.*4716A>G
ENST00000675726.1:c.2453A>G	ENSP00000502452.1:p.Tyr818Cys
ENST00000675772.1:c.2453A>G	ENSP00000501678.1:p.Tyr818Cys
ENST00000675831.1:c.2060A>G	ENSP00000502382.1:p.Tyr687Cys
ENST00000675849.1:n.2075A>G
ENST00000675879.1:c.1298A>G
ENST00000675954.1:n.3786A>G
ENST00000675991.1:c.*4280A>G	ENSP00000502162.1:n.*4280A>G
ENST00000675994.1:c.*1592A>G	ENSP00000502419.1:n.*1592A>G
ENST00000676021.1:c.*1031A>G	ENSP00000502746.1:n.*1031A>G
ENST00000676037.1:c.*380A>G	ENSP00000502181.1:n.*380A>G
ENST00000676136.1:n.5100A>G
ENST00000676246.1:n.343A>G
ENST00000676442.1:c.2324A>G	ENSP00000502595.1:p.Tyr775Cys
ENST00000230124.7:c.2453A>G	ENSP00000230124.3:p.Tyr818Cys
NM_014845.5:c.2453A>G , LRG_241t1:c.2453A>G	NP_055660.1:p.Tyr818Cys
XM_011536281.1:c.2390A>G	XP_011534583.1:p.Tyr797Cys
XM_011536281.3:c.2390A>G	XP_011534583.1:p.Tyr797Cys
XM_017011592.1:c.1904A>G	XP_016867081.1:p.Tyr635Cys
XM_017011593.2:c.1523A>G	XP_016867082.1:p.Tyr508Cys
NM_014845.6:c.2453A>G MANE Select	NP_055660.1:p.Tyr818Cys