Canonical Allele Identifier: CA365216555
Community Standard Title: NM_014845.6(FIG4):c.2302G>T (p.Glu768Ter)
Gene: FIG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.109791497G>T , CM000668.2:g.109791497G>T GRCh38
NC_000006.11:g.110112700G>T , CM000668.1:g.110112700G>T GRCh37
NC_000006.10:g.110219393G>T NCBI36
NG_007977.1:g.105277G>T , LRG_241:g.105277G>T

Transcript Alleles

HGVS Amino-acid Change
NM_014845.6:c.2302G>T MANE Select NP_055660.1:p.Glu768Ter
ENST00000230124.8:c.2302G>T MANE Select ENSP00000230124.4:p.Glu768Ter
NM_014845.5:c.2302G>T , LRG_241t1:c.2302G>T NP_055660.1:p.Glu768Ter
ENST00000230124.7:c.2302G>T ENSP00000230124.3:p.Glu768Ter
ENST00000415980.2:c.808G>T ENSP00000405660.2:p.Glu270Ter
ENST00000419951.1:c.223G>T ENSP00000396566.1:p.Glu75Ter
ENST00000419951.2:n.650G>T
ENST00000674532.1:n.5498G>T
ENST00000674557.1:c.*1595G>T ENSP00000501608.1:n.*1595G>T
ENST00000674569.1:c.*1421G>T ENSP00000502769.1:n.*1421G>T
ENST00000674571.1:c.*1421G>T ENSP00000501633.1:n.*1421G>T
ENST00000674575.1:c.*1421G>T ENSP00000502276.1:n.*1421G>T
ENST00000674641.1:c.1957G>T ENSP00000501609.1:p.Glu653Ter
ENST00000674644.1:c.1372G>T ENSP00000502201.1:p.Glu458Ter
ENST00000674649.1:c.*1995G>T ENSP00000501669.1:n.*1995G>T
ENST00000674657.1:c.*1734G>T ENSP00000502314.1:n.*1734G>T
ENST00000674744.1:c.2296G>T ENSP00000501661.1:p.Glu766Ter
ENST00000674778.1:c.*1520G>T ENSP00000502742.1:n.*1520G>T
ENST00000674783.1:c.*1217G>T ENSP00000502755.1:n.*1217G>T
ENST00000674884.1:c.2320G>T ENSP00000502668.1:p.Glu774Ter
ENST00000674930.1:c.*1427G>T ENSP00000502657.1:n.*1427G>T
ENST00000674933.1:c.2071G>T ENSP00000502376.1:p.Glu691Ter
ENST00000674956.1:c.*1516G>T ENSP00000501904.1:n.*1516G>T
ENST00000675004.1:c.*2254G>T ENSP00000501868.1:n.*2254G>T
ENST00000675009.1:c.*1686G>T ENSP00000502098.1:n.*1686G>T
ENST00000675096.1:c.2095G>T ENSP00000502116.1:p.Glu699Ter
ENST00000675122.1:c.*409G>T ENSP00000501810.1:n.*409G>T
ENST00000675153.1:c.*1019G>T ENSP00000501682.1:n.*1019G>T
ENST00000675254.1:n.2751G>T
ENST00000675272.1:n.6600G>T
ENST00000675284.1:c.2302G>T ENSP00000502758.1:p.Glu768Ter
ENST00000675301.1:n.959G>T
ENST00000675311.1:c.*1504G>T ENSP00000501961.1:n.*1504G>T
ENST00000675426.1:c.*1370G>T ENSP00000501819.1:n.*1370G>T
ENST00000675523.1:c.2071G>T ENSP00000502384.1:p.Glu691Ter
ENST00000675552.1:c.*4565G>T ENSP00000502197.1:n.*4565G>T
ENST00000675714.1:c.2302G>T ENSP00000502561.1:p.Glu768Ter
ENST00000675726.1:c.2302G>T ENSP00000502452.1:p.Glu768Ter
ENST00000675772.1:c.2302G>T ENSP00000501678.1:p.Glu768Ter
ENST00000675831.1:c.1909G>T ENSP00000502382.1:p.Glu637Ter
ENST00000675849.1:n.1924G>T
ENST00000675879.1:c.1147G>T
ENST00000675887.1:c.*1905G>T ENSP00000502123.1:n.*1905G>T
ENST00000675954.1:n.3635G>T
ENST00000675991.1:c.*3119G>T ENSP00000502162.1:n.*3119G>T
ENST00000675994.1:c.*1441G>T ENSP00000502419.1:n.*1441G>T
ENST00000676021.1:c.*880G>T ENSP00000502746.1:n.*880G>T
ENST00000676037.1:c.*229G>T ENSP00000502181.1:n.*229G>T
ENST00000676136.1:n.4949G>T
ENST00000676246.1:n.192G>T
ENST00000676442.1:c.2173G>T ENSP00000502595.1:p.Glu725Ter
XM_011536281.1:c.2239G>T XP_011534583.1:p.Glu747Ter
XM_011536281.3:c.2239G>T XP_011534583.1:p.Glu747Ter
XM_017011592.1:c.1753G>T XP_016867081.1:p.Glu585Ter
XM_017011593.2:c.1372G>T XP_016867082.1:p.Glu458Ter