Canonical Allele Identifier: CA3956395

Gene: FIG4

Linked Data

• ClinVar Variation Id: 804806
• ClinVar RCV Id: RCV000991994 ; RCV001341199 ; RCV002454236 ; RCV002489468 ; RCV003147570 ; RCV003918621
• dbSNP Id: rs375414729
• ExAC: 6:110113852 T / C
• gnomAD v2: 6-110113852-T-C
• gnomAD v3: 6-109792649-T-C
• gnomAD v4: 6-109792649-T-C
• MyVariant Identifiers: chr6:g.110113852T>C (hg19) ; chr6:g.109792649T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792649T>C , CM000668.2:g.109792649T>C	GRCh38
NC_000006.11:g.110113852T>C , CM000668.1:g.110113852T>C	GRCh37
NC_000006.10:g.110220545T>C	NCBI36
NG_007977.1:g.106429T>C , LRG_241:g.106429T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2444T>C MANE Select	ENSP00000230124.4:p.Phe815Ser
ENST00000415980.2:c.950T>C	ENSP00000405660.2:p.Phe317Ser
ENST00000419951.2:n.792T>C
ENST00000674532.1:n.5640T>C
ENST00000674557.1:c.*1737T>C	ENSP00000501608.1:n.*1737T>C
ENST00000674569.1:c.*1563T>C	ENSP00000502769.1:n.*1563T>C
ENST00000674571.1:c.*1563T>C	ENSP00000501633.1:n.*1563T>C
ENST00000674575.1:c.*1563T>C	ENSP00000502276.1:n.*1563T>C
ENST00000674641.1:c.2099T>C	ENSP00000501609.1:p.Phe700Ser
ENST00000674649.1:c.*2137T>C	ENSP00000501669.1:n.*2137T>C
ENST00000674657.1:c.*1876T>C	ENSP00000502314.1:n.*1876T>C
ENST00000674744.1:c.2438T>C	ENSP00000501661.1:p.Phe813Ser
ENST00000674778.1:c.*1662T>C	ENSP00000502742.1:n.*1662T>C
ENST00000674783.1:c.*1359T>C	ENSP00000502755.1:n.*1359T>C
ENST00000674884.1:c.2462T>C	ENSP00000502668.1:p.Phe821Ser
ENST00000674930.1:c.*1569T>C	ENSP00000502657.1:n.*1569T>C
ENST00000674933.1:c.2213T>C	ENSP00000502376.1:p.Phe738Ser
ENST00000674956.1:c.*1658T>C	ENSP00000501904.1:n.*1658T>C
ENST00000675004.1:c.*2396T>C	ENSP00000501868.1:n.*2396T>C
ENST00000675009.1:c.*1828T>C	ENSP00000502098.1:n.*1828T>C
ENST00000675096.1:c.2237T>C	ENSP00000502116.1:p.Phe746Ser
ENST00000675122.1:c.*551T>C	ENSP00000501810.1:n.*551T>C
ENST00000675153.1:c.*1161T>C	ENSP00000501682.1:n.*1161T>C
ENST00000675254.1:n.3903T>C
ENST00000675272.1:n.6742T>C
ENST00000675284.1:c.2444T>C	ENSP00000502758.1:p.Phe815Ser
ENST00000675301.1:n.1101T>C
ENST00000675311.1:c.*1646T>C	ENSP00000501961.1:n.*1646T>C
ENST00000675426.1:c.*1512T>C	ENSP00000501819.1:n.*1512T>C
ENST00000675523.1:c.2213T>C	ENSP00000502384.1:p.Phe738Ser
ENST00000675552.1:c.*4707T>C	ENSP00000502197.1:n.*4707T>C
ENST00000675726.1:c.2444T>C	ENSP00000502452.1:p.Phe815Ser
ENST00000675772.1:c.2444T>C	ENSP00000501678.1:p.Phe815Ser
ENST00000675831.1:c.2051T>C	ENSP00000502382.1:p.Phe684Ser
ENST00000675849.1:n.2066T>C
ENST00000675879.1:c.1289T>C
ENST00000675954.1:n.3777T>C
ENST00000675991.1:c.*4271T>C	ENSP00000502162.1:n.*4271T>C
ENST00000675994.1:c.*1583T>C	ENSP00000502419.1:n.*1583T>C
ENST00000676021.1:c.*1022T>C	ENSP00000502746.1:n.*1022T>C
ENST00000676037.1:c.*371T>C	ENSP00000502181.1:n.*371T>C
ENST00000676136.1:n.5091T>C
ENST00000676246.1:n.334T>C
ENST00000676442.1:c.2315T>C	ENSP00000502595.1:p.Phe772Ser
ENST00000230124.7:c.2444T>C	ENSP00000230124.3:p.Phe815Ser
NM_014845.5:c.2444T>C , LRG_241t1:c.2444T>C	NP_055660.1:p.Phe815Ser
XM_011536281.1:c.2381T>C	XP_011534583.1:p.Phe794Ser
XM_011536281.3:c.2381T>C	XP_011534583.1:p.Phe794Ser
XM_017011592.1:c.1895T>C	XP_016867081.1:p.Phe632Ser
XM_017011593.2:c.1514T>C	XP_016867082.1:p.Phe505Ser
NM_014845.6:c.2444T>C MANE Select	NP_055660.1:p.Phe815Ser