Canonical Allele Identifier: CA365217867

Gene: FIG4

Linked Data

• ClinVar Variation Id: 1982267
• ClinVar RCV Id: RCV002794989
• dbSNP Id: rs1406213877
• gnomAD v2: 6-110113851-T-C
• gnomAD v4: 6-109792648-T-C
• MyVariant Identifiers: chr6:g.110113851T>C (hg19) ; chr6:g.109792648T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792648T>C , CM000668.2:g.109792648T>C	GRCh38
NC_000006.11:g.110113851T>C , CM000668.1:g.110113851T>C	GRCh37
NC_000006.10:g.110220544T>C	NCBI36
NG_007977.1:g.106428T>C , LRG_241:g.106428T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2443T>C MANE Select	ENSP00000230124.4:p.Phe815Leu
ENST00000415980.2:c.949T>C	ENSP00000405660.2:p.Phe317Leu
ENST00000419951.2:n.791T>C
ENST00000674532.1:n.5639T>C
ENST00000674557.1:c.*1736T>C	ENSP00000501608.1:n.*1736T>C
ENST00000674569.1:c.*1562T>C	ENSP00000502769.1:n.*1562T>C
ENST00000674571.1:c.*1562T>C	ENSP00000501633.1:n.*1562T>C
ENST00000674575.1:c.*1562T>C	ENSP00000502276.1:n.*1562T>C
ENST00000674641.1:c.2098T>C	ENSP00000501609.1:p.Phe700Leu
ENST00000674649.1:c.*2136T>C	ENSP00000501669.1:n.*2136T>C
ENST00000674657.1:c.*1875T>C	ENSP00000502314.1:n.*1875T>C
ENST00000674744.1:c.2437T>C	ENSP00000501661.1:p.Phe813Leu
ENST00000674778.1:c.*1661T>C	ENSP00000502742.1:n.*1661T>C
ENST00000674783.1:c.*1358T>C	ENSP00000502755.1:n.*1358T>C
ENST00000674884.1:c.2461T>C	ENSP00000502668.1:p.Phe821Leu
ENST00000674930.1:c.*1568T>C	ENSP00000502657.1:n.*1568T>C
ENST00000674933.1:c.2212T>C	ENSP00000502376.1:p.Phe738Leu
ENST00000674956.1:c.*1657T>C	ENSP00000501904.1:n.*1657T>C
ENST00000675004.1:c.*2395T>C	ENSP00000501868.1:n.*2395T>C
ENST00000675009.1:c.*1827T>C	ENSP00000502098.1:n.*1827T>C
ENST00000675096.1:c.2236T>C	ENSP00000502116.1:p.Phe746Leu
ENST00000675122.1:c.*550T>C	ENSP00000501810.1:n.*550T>C
ENST00000675153.1:c.*1160T>C	ENSP00000501682.1:n.*1160T>C
ENST00000675254.1:n.3902T>C
ENST00000675272.1:n.6741T>C
ENST00000675284.1:c.2443T>C	ENSP00000502758.1:p.Phe815Leu
ENST00000675301.1:n.1100T>C
ENST00000675311.1:c.*1645T>C	ENSP00000501961.1:n.*1645T>C
ENST00000675426.1:c.*1511T>C	ENSP00000501819.1:n.*1511T>C
ENST00000675523.1:c.2212T>C	ENSP00000502384.1:p.Phe738Leu
ENST00000675552.1:c.*4706T>C	ENSP00000502197.1:n.*4706T>C
ENST00000675726.1:c.2443T>C	ENSP00000502452.1:p.Phe815Leu
ENST00000675772.1:c.2443T>C	ENSP00000501678.1:p.Phe815Leu
ENST00000675831.1:c.2050T>C	ENSP00000502382.1:p.Phe684Leu
ENST00000675849.1:n.2065T>C
ENST00000675879.1:c.1288T>C
ENST00000675954.1:n.3776T>C
ENST00000675991.1:c.*4270T>C	ENSP00000502162.1:n.*4270T>C
ENST00000675994.1:c.*1582T>C	ENSP00000502419.1:n.*1582T>C
ENST00000676021.1:c.*1021T>C	ENSP00000502746.1:n.*1021T>C
ENST00000676037.1:c.*370T>C	ENSP00000502181.1:n.*370T>C
ENST00000676136.1:n.5090T>C
ENST00000676246.1:n.333T>C
ENST00000676442.1:c.2314T>C	ENSP00000502595.1:p.Phe772Leu
ENST00000230124.7:c.2443T>C	ENSP00000230124.3:p.Phe815Leu
NM_014845.5:c.2443T>C , LRG_241t1:c.2443T>C	NP_055660.1:p.Phe815Leu
XM_011536281.1:c.2380T>C	XP_011534583.1:p.Phe794Leu
XM_011536281.3:c.2380T>C	XP_011534583.1:p.Phe794Leu
XM_017011592.1:c.1894T>C	XP_016867081.1:p.Phe632Leu
XM_017011593.2:c.1513T>C	XP_016867082.1:p.Phe505Leu
NM_014845.6:c.2443T>C MANE Select	NP_055660.1:p.Phe815Leu