Canonical Allele Identifier: CA3956271

Gene: FIG4

Linked Data

• ClinVar Variation Id: 355043
• ClinVar RCV Id: RCV000336983 ; RCV000401287 ; RCV000481727 ; RCV001095047
• dbSNP Id: rs750091928
• ExAC: 6:110107652 G / A
• gnomAD v2: 6-110107652-G-A
• gnomAD v3: 6-109786449-G-A
• gnomAD v4: 6-109786449-G-A
• MyVariant Identifiers: chr6:g.110107652G>A (hg19) ; chr6:g.109786449G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109786449G>A , CM000668.2:g.109786449G>A	GRCh38
NC_000006.11:g.110107652G>A , CM000668.1:g.110107652G>A	GRCh37
NC_000006.10:g.110214345G>A	NCBI36
NG_007977.1:g.100229G>A , LRG_241:g.100229G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2096G>A MANE Select	ENSP00000230124.4:p.Arg699His
ENST00000415980.2:c.602G>A	ENSP00000405660.2:p.Arg201His
ENST00000419951.2:n.444G>A
ENST00000674532.1:n.5292G>A
ENST00000674557.1:c.*1389G>A	ENSP00000501608.1:n.*1389G>A
ENST00000674569.1:c.*1215G>A	ENSP00000502769.1:n.*1215G>A
ENST00000674571.1:c.*1215G>A	ENSP00000501633.1:n.*1215G>A
ENST00000674575.1:c.*1215G>A	ENSP00000502276.1:n.*1215G>A
ENST00000674641.1:c.1751G>A	ENSP00000501609.1:p.Arg584His
ENST00000674644.1:c.1166G>A	ENSP00000502201.1:p.Arg389His
ENST00000674649.1:c.*1789G>A	ENSP00000501669.1:n.*1789G>A
ENST00000674657.1:c.*1528G>A	ENSP00000502314.1:n.*1528G>A
ENST00000674744.1:c.2090G>A	ENSP00000501661.1:p.Arg697His
ENST00000674778.1:c.*1314G>A	ENSP00000502742.1:n.*1314G>A
ENST00000674783.1:c.*1011G>A	ENSP00000502755.1:n.*1011G>A
ENST00000674884.1:c.2114G>A	ENSP00000502668.1:p.Arg705His
ENST00000674930.1:c.*1221G>A	ENSP00000502657.1:n.*1221G>A
ENST00000674933.1:c.1865G>A	ENSP00000502376.1:p.Arg622His
ENST00000674956.1:c.*1310G>A	ENSP00000501904.1:n.*1310G>A
ENST00000675004.1:c.*2048G>A	ENSP00000501868.1:n.*2048G>A
ENST00000675009.1:c.*1480G>A	ENSP00000502098.1:n.*1480G>A
ENST00000675096.1:c.1890-3145G>A	ENSP00000502116.1:n.1890-3145G>A
ENST00000675122.1:c.*203G>A	ENSP00000501810.1:n.*203G>A
ENST00000675153.1:c.*813G>A	ENSP00000501682.1:n.*813G>A
ENST00000675272.1:n.6394G>A
ENST00000675284.1:c.2096G>A	ENSP00000502758.1:p.Arg699His
ENST00000675301.1:n.753G>A
ENST00000675311.1:c.*1298G>A	ENSP00000501961.1:n.*1298G>A
ENST00000675426.1:c.*1164G>A	ENSP00000501819.1:n.*1164G>A
ENST00000675523.1:c.1865G>A	ENSP00000502384.1:p.Arg622His
ENST00000675552.1:c.*1215G>A	ENSP00000502197.1:n.*1215G>A
ENST00000675714.1:c.2096G>A	ENSP00000502561.1:p.Arg699His
ENST00000675726.1:c.2096G>A	ENSP00000502452.1:p.Arg699His
ENST00000675772.1:c.2096G>A	ENSP00000501678.1:p.Arg699His
ENST00000675831.1:c.1703G>A	ENSP00000502382.1:p.Arg568His
ENST00000675849.1:n.1718G>A
ENST00000675879.1:c.825G>A
ENST00000675887.1:c.*1699G>A	ENSP00000502123.1:n.*1699G>A
ENST00000675954.1:n.3429G>A
ENST00000675991.1:c.*1215G>A	ENSP00000502162.1:n.*1215G>A
ENST00000675994.1:c.*1076G>A	ENSP00000502419.1:n.*1076G>A
ENST00000676021.1:c.*674G>A	ENSP00000502746.1:n.*674G>A
ENST00000676037.1:c.2096G>A	ENSP00000502181.1:p.Arg699His
ENST00000676136.1:n.2236G>A
ENST00000676442.1:c.1967G>A	ENSP00000502595.1:p.Arg656His
ENST00000230124.7:c.2096G>A	ENSP00000230124.3:p.Arg699His
ENST00000419951.1:c.17G>A	ENSP00000396566.1:p.Arg6His
NM_014845.5:c.2096G>A , LRG_241t1:c.2096G>A	NP_055660.1:p.Arg699His
XM_011536281.1:c.2033G>A	XP_011534583.1:p.Arg678His
XM_011536281.3:c.2033G>A	XP_011534583.1:p.Arg678His
XM_017011591.2:c.2096G>A	XP_016867080.1:p.Arg699His
XM_017011592.1:c.1547G>A	XP_016867081.1:p.Arg516His
XM_017011593.2:c.1166G>A	XP_016867082.1:p.Arg389His
NM_014845.6:c.2096G>A MANE Select	NP_055660.1:p.Arg699His