Canonical Allele Identifier: CA3956104
Community Standard Title: NM_014845.6(FIG4):c.1474C>T (p.Arg492Cys)
Gene: FIG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.109765052C>T , CM000668.2:g.109765052C>T GRCh38
NC_000006.11:g.110086255C>T , CM000668.1:g.110086255C>T GRCh37
NC_000006.10:g.110192948C>T NCBI36
NG_007977.1:g.78832C>T , LRG_241:g.78832C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014845.6:c.1474C>T MANE Select NP_055660.1:p.Arg492Cys
ENST00000230124.8:c.1474C>T MANE Select ENSP00000230124.4:p.Arg492Cys
NM_014845.5:c.1474C>T , LRG_241t1:c.1474C>T NP_055660.1:p.Arg492Cys
ENST00000230124.7:c.1474C>T ENSP00000230124.3:p.Arg492Cys
ENST00000415980.2:c.-21C>T ENSP00000405660.2:n.-21C>T
ENST00000674532.1:n.4670C>T
ENST00000674557.1:c.*906C>T ENSP00000501608.1:n.*906C>T
ENST00000674569.1:c.*593C>T ENSP00000502769.1:n.*593C>T
ENST00000674571.1:c.*593C>T ENSP00000501633.1:n.*593C>T
ENST00000674575.1:c.*593C>T ENSP00000502276.1:n.*593C>T
ENST00000674641.1:c.1129C>T ENSP00000501609.1:p.Arg377Cys
ENST00000674644.1:c.544C>T ENSP00000502201.1:p.Arg182Cys
ENST00000674649.1:c.*1167C>T ENSP00000501669.1:n.*1167C>T
ENST00000674657.1:c.*906C>T ENSP00000502314.1:n.*906C>T
ENST00000674744.1:c.1468C>T ENSP00000501661.1:p.Arg490Cys
ENST00000674778.1:c.*593C>T ENSP00000502742.1:n.*593C>T
ENST00000674783.1:c.*389C>T ENSP00000502755.1:n.*389C>T
ENST00000674884.1:c.1492C>T ENSP00000502668.1:p.Arg498Cys
ENST00000674930.1:c.*599C>T ENSP00000502657.1:n.*599C>T
ENST00000674933.1:c.1243C>T ENSP00000502376.1:p.Arg415Cys
ENST00000674956.1:c.*688C>T ENSP00000501904.1:n.*688C>T
ENST00000675004.1:c.*1426C>T ENSP00000501868.1:n.*1426C>T
ENST00000675009.1:c.*858C>T ENSP00000502098.1:n.*858C>T
ENST00000675096.1:c.1474C>T ENSP00000502116.1:p.Arg492Cys
ENST00000675122.1:c.1474C>T ENSP00000501810.1:p.Arg492Cys
ENST00000675153.1:c.*191C>T ENSP00000501682.1:n.*191C>T
ENST00000675272.1:n.5772C>T
ENST00000675284.1:c.1474C>T ENSP00000502758.1:p.Arg492Cys
ENST00000675311.1:c.*676C>T ENSP00000501961.1:n.*676C>T
ENST00000675426.1:c.*542C>T ENSP00000501819.1:n.*542C>T
ENST00000675523.1:c.1243C>T ENSP00000502384.1:p.Arg415Cys
ENST00000675552.1:c.*593C>T ENSP00000502197.1:n.*593C>T
ENST00000675681.1:c.1474C>T ENSP00000502705.1:p.Arg492Cys
ENST00000675714.1:c.1474C>T ENSP00000502561.1:p.Arg492Cys
ENST00000675726.1:c.1474C>T ENSP00000502452.1:p.Arg492Cys
ENST00000675772.1:c.1474C>T ENSP00000501678.1:p.Arg492Cys
ENST00000675831.1:c.1081C>T ENSP00000502382.1:p.Arg361Cys
ENST00000675847.1:n.1598C>T
ENST00000675849.1:n.1096C>T
ENST00000675879.1:c.203C>T
ENST00000675887.1:c.*1077C>T ENSP00000502123.1:n.*1077C>T
ENST00000675973.1:c.1345C>T ENSP00000502407.1:p.Arg449Cys
ENST00000675991.1:c.*593C>T ENSP00000502162.1:n.*593C>T
ENST00000675994.1:c.*593C>T ENSP00000502419.1:n.*593C>T
ENST00000676021.1:c.*191C>T ENSP00000502746.1:n.*191C>T
ENST00000676037.1:c.1474C>T ENSP00000502181.1:p.Arg492Cys
ENST00000676136.1:n.1614C>T
ENST00000676442.1:c.1345C>T ENSP00000502595.1:p.Arg449Cys
XM_011536281.1:c.1411C>T XP_011534583.1:p.Arg471Cys
XM_011536281.3:c.1411C>T XP_011534583.1:p.Arg471Cys
XM_017011591.2:c.1474C>T XP_016867080.1:p.Arg492Cys
XM_017011592.1:c.925C>T XP_016867081.1:p.Arg309Cys
XM_017011593.2:c.544C>T XP_016867082.1:p.Arg182Cys