Canonical Allele Identifier: CA365229912
Community Standard Title: NM_014845.6(FIG4):c.1762C>T (p.Gln588Ter)
Gene: FIG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.109776933C>T , CM000668.2:g.109776933C>T GRCh38
NC_000006.11:g.110098136C>T , CM000668.1:g.110098136C>T GRCh37
NC_000006.10:g.110204829C>T NCBI36
NG_007977.1:g.90713C>T , LRG_241:g.90713C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014845.6:c.1762C>T MANE Select NP_055660.1:p.Gln588Ter
ENST00000230124.8:c.1762C>T MANE Select ENSP00000230124.4:p.Gln588Ter
NM_014845.5:c.1762C>T , LRG_241t1:c.1762C>T NP_055660.1:p.Gln588Ter
ENST00000230124.7:c.1762C>T ENSP00000230124.3:p.Gln588Ter
ENST00000415980.1:c.179C>T
ENST00000415980.2:c.268C>T ENSP00000405660.2:p.Gln90Ter
ENST00000674532.1:n.4958C>T
ENST00000674557.1:c.*1183-8037C>T ENSP00000501608.1:n.*1183-8037C>T
ENST00000674569.1:c.*881C>T ENSP00000502769.1:n.*881C>T
ENST00000674571.1:c.*881C>T ENSP00000501633.1:n.*881C>T
ENST00000674575.1:c.*881C>T ENSP00000502276.1:n.*881C>T
ENST00000674641.1:c.1417C>T ENSP00000501609.1:p.Gln473Ter
ENST00000674644.1:c.832C>T ENSP00000502201.1:p.Gln278Ter
ENST00000674649.1:c.*1455C>T ENSP00000501669.1:n.*1455C>T
ENST00000674657.1:c.*1194C>T ENSP00000502314.1:n.*1194C>T
ENST00000674744.1:c.1756C>T ENSP00000501661.1:p.Gln586Ter
ENST00000674778.1:c.*881C>T ENSP00000502742.1:n.*881C>T
ENST00000674783.1:c.*677C>T ENSP00000502755.1:n.*677C>T
ENST00000674884.1:c.1780C>T ENSP00000502668.1:p.Gln594Ter
ENST00000674930.1:c.*887C>T ENSP00000502657.1:n.*887C>T
ENST00000674933.1:c.1531C>T ENSP00000502376.1:p.Gln511Ter
ENST00000674956.1:c.*976C>T ENSP00000501904.1:n.*976C>T
ENST00000675004.1:c.*1714C>T ENSP00000501868.1:n.*1714C>T
ENST00000675009.1:c.*1146C>T ENSP00000502098.1:n.*1146C>T
ENST00000675096.1:c.1762C>T ENSP00000502116.1:p.Gln588Ter
ENST00000675122.1:c.1762C>T ENSP00000501810.1:p.Gln588Ter
ENST00000675153.1:c.*479C>T ENSP00000501682.1:n.*479C>T
ENST00000675272.1:n.6060C>T
ENST00000675284.1:c.1762C>T ENSP00000502758.1:p.Gln588Ter
ENST00000675301.1:n.419C>T
ENST00000675311.1:c.*964C>T ENSP00000501961.1:n.*964C>T
ENST00000675426.1:c.*830C>T ENSP00000501819.1:n.*830C>T
ENST00000675523.1:c.1531C>T ENSP00000502384.1:p.Gln511Ter
ENST00000675552.1:c.*881C>T ENSP00000502197.1:n.*881C>T
ENST00000675714.1:c.1762C>T ENSP00000502561.1:p.Gln588Ter
ENST00000675726.1:c.1762C>T ENSP00000502452.1:p.Gln588Ter
ENST00000675772.1:c.1762C>T ENSP00000501678.1:p.Gln588Ter
ENST00000675831.1:c.1369C>T ENSP00000502382.1:p.Gln457Ter
ENST00000675849.1:n.1384C>T
ENST00000675879.1:c.491C>T
ENST00000675887.1:c.*1365C>T ENSP00000502123.1:n.*1365C>T
ENST00000675954.1:n.3095C>T
ENST00000675991.1:c.*881C>T ENSP00000502162.1:n.*881C>T
ENST00000675994.1:c.*870-8037C>T ENSP00000502419.1:n.*870-8037C>T
ENST00000676021.1:c.*468-8037C>T ENSP00000502746.1:n.*468-8037C>T
ENST00000676037.1:c.1762C>T ENSP00000502181.1:p.Gln588Ter
ENST00000676136.1:n.1902C>T
ENST00000676442.1:c.1633C>T ENSP00000502595.1:p.Gln545Ter
XM_011536281.1:c.1699C>T XP_011534583.1:p.Gln567Ter
XM_011536281.3:c.1699C>T XP_011534583.1:p.Gln567Ter
XM_017011591.2:c.1762C>T XP_016867080.1:p.Gln588Ter
XM_017011592.1:c.1213C>T XP_016867081.1:p.Gln405Ter
XM_017011593.2:c.832C>T XP_016867082.1:p.Gln278Ter