Canonical Allele Identifier: CA365217063

Gene: FIG4

Linked Data

• ClinVar Variation Id: 2133591
• ClinVar RCV Id: RCV003041008
• MyVariant Identifiers: chr6:g.110113786A>C (hg19) ; chr6:g.109792583A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792583A>C , CM000668.2:g.109792583A>C	GRCh38
NC_000006.11:g.110113786A>C , CM000668.1:g.110113786A>C	GRCh37
NC_000006.10:g.110220479A>C	NCBI36
NG_007977.1:g.106363A>C , LRG_241:g.106363A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.2378A>C MANE Select	ENSP00000230124.4:p.Asn793Thr
ENST00000415980.2:c.884A>C	ENSP00000405660.2:p.Asn295Thr
ENST00000419951.2:n.726A>C
ENST00000674532.1:n.5574A>C
ENST00000674557.1:c.*1671A>C	ENSP00000501608.1:n.*1671A>C
ENST00000674569.1:c.*1497A>C	ENSP00000502769.1:n.*1497A>C
ENST00000674571.1:c.*1497A>C	ENSP00000501633.1:n.*1497A>C
ENST00000674575.1:c.*1497A>C	ENSP00000502276.1:n.*1497A>C
ENST00000674641.1:c.2033A>C	ENSP00000501609.1:p.Asn678Thr
ENST00000674644.1:c.1448A>C	ENSP00000502201.1:p.Asn483Thr
ENST00000674649.1:c.*2071A>C	ENSP00000501669.1:n.*2071A>C
ENST00000674657.1:c.*1810A>C	ENSP00000502314.1:n.*1810A>C
ENST00000674744.1:c.2372A>C	ENSP00000501661.1:p.Asn791Thr
ENST00000674778.1:c.*1596A>C	ENSP00000502742.1:n.*1596A>C
ENST00000674783.1:c.*1293A>C	ENSP00000502755.1:n.*1293A>C
ENST00000674884.1:c.2396A>C	ENSP00000502668.1:p.Asn799Thr
ENST00000674930.1:c.*1503A>C	ENSP00000502657.1:n.*1503A>C
ENST00000674933.1:c.2147A>C	ENSP00000502376.1:p.Asn716Thr
ENST00000674956.1:c.*1592A>C	ENSP00000501904.1:n.*1592A>C
ENST00000675004.1:c.*2330A>C	ENSP00000501868.1:n.*2330A>C
ENST00000675009.1:c.*1762A>C	ENSP00000502098.1:n.*1762A>C
ENST00000675096.1:c.2171A>C	ENSP00000502116.1:p.Asn724Thr
ENST00000675122.1:c.*485A>C	ENSP00000501810.1:n.*485A>C
ENST00000675153.1:c.*1095A>C	ENSP00000501682.1:n.*1095A>C
ENST00000675254.1:n.3837A>C
ENST00000675272.1:n.6676A>C
ENST00000675284.1:c.2378A>C	ENSP00000502758.1:p.Asn793Thr
ENST00000675301.1:n.1035A>C
ENST00000675311.1:c.*1580A>C	ENSP00000501961.1:n.*1580A>C
ENST00000675426.1:c.*1446A>C	ENSP00000501819.1:n.*1446A>C
ENST00000675523.1:c.2147A>C	ENSP00000502384.1:p.Asn716Thr
ENST00000675552.1:c.*4641A>C	ENSP00000502197.1:n.*4641A>C
ENST00000675726.1:c.2378A>C	ENSP00000502452.1:p.Asn793Thr
ENST00000675772.1:c.2378A>C	ENSP00000501678.1:p.Asn793Thr
ENST00000675831.1:c.1985A>C	ENSP00000502382.1:p.Asn662Thr
ENST00000675849.1:n.2000A>C
ENST00000675879.1:c.1223A>C
ENST00000675887.1:c.*1981A>C	ENSP00000502123.1:n.*1981A>C
ENST00000675954.1:n.3711A>C
ENST00000675991.1:c.*4205A>C	ENSP00000502162.1:n.*4205A>C
ENST00000675994.1:c.*1517A>C	ENSP00000502419.1:n.*1517A>C
ENST00000676021.1:c.*956A>C	ENSP00000502746.1:n.*956A>C
ENST00000676037.1:c.*305A>C	ENSP00000502181.1:n.*305A>C
ENST00000676136.1:n.5025A>C
ENST00000676246.1:n.268A>C
ENST00000676442.1:c.2249A>C	ENSP00000502595.1:p.Asn750Thr
ENST00000230124.7:c.2378A>C	ENSP00000230124.3:p.Asn793Thr
NM_014845.5:c.2378A>C , LRG_241t1:c.2378A>C	NP_055660.1:p.Asn793Thr
XM_011536281.1:c.2315A>C	XP_011534583.1:p.Asn772Thr
XM_011536281.3:c.2315A>C	XP_011534583.1:p.Asn772Thr
XM_017011592.1:c.1829A>C	XP_016867081.1:p.Asn610Thr
XM_017011593.2:c.1448A>C	XP_016867082.1:p.Asn483Thr
NM_014845.6:c.2378A>C MANE Select	NP_055660.1:p.Asn793Thr