Canonical Allele Identifier: CA365217852

Gene: FIG4

Linked Data

• ClinVar Variation Id: 916870
• ClinVar RCV Id: RCV001172953
• dbSNP Id: rs1778168177
• MyVariant Identifiers: chr6:g.110113849A>T (hg19) ; chr6:g.109792646A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792646A>T , CM000668.2:g.109792646A>T	GRCh38
NC_000006.11:g.110113849A>T , CM000668.1:g.110113849A>T	GRCh37
NC_000006.10:g.110220542A>T	NCBI36
NG_007977.1:g.106426A>T , LRG_241:g.106426A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2441A>T MANE Select	ENSP00000230124.4:p.Asp814Val
ENST00000415980.2:c.947A>T	ENSP00000405660.2:p.Asp316Val
ENST00000419951.2:n.789A>T
ENST00000674532.1:n.5637A>T
ENST00000674557.1:c.*1734A>T	ENSP00000501608.1:n.*1734A>T
ENST00000674569.1:c.*1560A>T	ENSP00000502769.1:n.*1560A>T
ENST00000674571.1:c.*1560A>T	ENSP00000501633.1:n.*1560A>T
ENST00000674575.1:c.*1560A>T	ENSP00000502276.1:n.*1560A>T
ENST00000674641.1:c.2096A>T	ENSP00000501609.1:p.Asp699Val
ENST00000674649.1:c.*2134A>T	ENSP00000501669.1:n.*2134A>T
ENST00000674657.1:c.*1873A>T	ENSP00000502314.1:n.*1873A>T
ENST00000674744.1:c.2435A>T	ENSP00000501661.1:p.Asp812Val
ENST00000674778.1:c.*1659A>T	ENSP00000502742.1:n.*1659A>T
ENST00000674783.1:c.*1356A>T	ENSP00000502755.1:n.*1356A>T
ENST00000674884.1:c.2459A>T	ENSP00000502668.1:p.Asp820Val
ENST00000674930.1:c.*1566A>T	ENSP00000502657.1:n.*1566A>T
ENST00000674933.1:c.2210A>T	ENSP00000502376.1:p.Asp737Val
ENST00000674956.1:c.*1655A>T	ENSP00000501904.1:n.*1655A>T
ENST00000675004.1:c.*2393A>T	ENSP00000501868.1:n.*2393A>T
ENST00000675009.1:c.*1825A>T	ENSP00000502098.1:n.*1825A>T
ENST00000675096.1:c.2234A>T	ENSP00000502116.1:p.Asp745Val
ENST00000675122.1:c.*548A>T	ENSP00000501810.1:n.*548A>T
ENST00000675153.1:c.*1158A>T	ENSP00000501682.1:n.*1158A>T
ENST00000675254.1:n.3900A>T
ENST00000675272.1:n.6739A>T
ENST00000675284.1:c.2441A>T	ENSP00000502758.1:p.Asp814Val
ENST00000675301.1:n.1098A>T
ENST00000675311.1:c.*1643A>T	ENSP00000501961.1:n.*1643A>T
ENST00000675426.1:c.*1509A>T	ENSP00000501819.1:n.*1509A>T
ENST00000675523.1:c.2210A>T	ENSP00000502384.1:p.Asp737Val
ENST00000675552.1:c.*4704A>T	ENSP00000502197.1:n.*4704A>T
ENST00000675726.1:c.2441A>T	ENSP00000502452.1:p.Asp814Val
ENST00000675772.1:c.2441A>T	ENSP00000501678.1:p.Asp814Val
ENST00000675831.1:c.2048A>T	ENSP00000502382.1:p.Asp683Val
ENST00000675849.1:n.2063A>T
ENST00000675879.1:c.1286A>T
ENST00000675954.1:n.3774A>T
ENST00000675991.1:c.*4268A>T	ENSP00000502162.1:n.*4268A>T
ENST00000675994.1:c.*1580A>T	ENSP00000502419.1:n.*1580A>T
ENST00000676021.1:c.*1019A>T	ENSP00000502746.1:n.*1019A>T
ENST00000676037.1:c.*368A>T	ENSP00000502181.1:n.*368A>T
ENST00000676136.1:n.5088A>T
ENST00000676246.1:n.331A>T
ENST00000676442.1:c.2312A>T	ENSP00000502595.1:p.Asp771Val
ENST00000230124.7:c.2441A>T	ENSP00000230124.3:p.Asp814Val
NM_014845.5:c.2441A>T , LRG_241t1:c.2441A>T	NP_055660.1:p.Asp814Val
XM_011536281.1:c.2378A>T	XP_011534583.1:p.Asp793Val
XM_011536281.3:c.2378A>T	XP_011534583.1:p.Asp793Val
XM_017011592.1:c.1892A>T	XP_016867081.1:p.Asp631Val
XM_017011593.2:c.1511A>T	XP_016867082.1:p.Asp504Val
NM_014845.6:c.2441A>T MANE Select	NP_055660.1:p.Asp814Val