Canonical Allele Identifier: CA365228749
Community Standard Title: NM_014845.6(FIG4):c.1714C>T (p.Gln572Ter)
Gene: FIG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.109766859C>T , CM000668.2:g.109766859C>T GRCh38
NC_000006.11:g.110088062C>T , CM000668.1:g.110088062C>T GRCh37
NC_000006.10:g.110194755C>T NCBI36
NG_007977.1:g.80639C>T , LRG_241:g.80639C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014845.6:c.1714C>T MANE Select NP_055660.1:p.Gln572Ter
ENST00000230124.8:c.1714C>T MANE Select ENSP00000230124.4:p.Gln572Ter
NM_014845.5:c.1714C>T , LRG_241t1:c.1714C>T NP_055660.1:p.Gln572Ter
ENST00000230124.7:c.1714C>T ENSP00000230124.3:p.Gln572Ter
ENST00000415980.1:c.131C>T
ENST00000415980.2:c.220C>T ENSP00000405660.2:p.Gln74Ter
ENST00000674532.1:n.4910C>T
ENST00000674557.1:c.*1146C>T ENSP00000501608.1:n.*1146C>T
ENST00000674569.1:c.*833C>T ENSP00000502769.1:n.*833C>T
ENST00000674571.1:c.*833C>T ENSP00000501633.1:n.*833C>T
ENST00000674575.1:c.*833C>T ENSP00000502276.1:n.*833C>T
ENST00000674641.1:c.1369C>T ENSP00000501609.1:p.Gln457Ter
ENST00000674644.1:c.784C>T ENSP00000502201.1:p.Gln262Ter
ENST00000674649.1:c.*1407C>T ENSP00000501669.1:n.*1407C>T
ENST00000674657.1:c.*1146C>T ENSP00000502314.1:n.*1146C>T
ENST00000674744.1:c.1708C>T ENSP00000501661.1:p.Gln570Ter
ENST00000674778.1:c.*833C>T ENSP00000502742.1:n.*833C>T
ENST00000674783.1:c.*629C>T ENSP00000502755.1:n.*629C>T
ENST00000674884.1:c.1732C>T ENSP00000502668.1:p.Gln578Ter
ENST00000674930.1:c.*839C>T ENSP00000502657.1:n.*839C>T
ENST00000674933.1:c.1483C>T ENSP00000502376.1:p.Gln495Ter
ENST00000674956.1:c.*928C>T ENSP00000501904.1:n.*928C>T
ENST00000675004.1:c.*1666C>T ENSP00000501868.1:n.*1666C>T
ENST00000675009.1:c.*1098C>T ENSP00000502098.1:n.*1098C>T
ENST00000675096.1:c.1714C>T ENSP00000502116.1:p.Gln572Ter
ENST00000675122.1:c.1714C>T ENSP00000501810.1:p.Gln572Ter
ENST00000675153.1:c.*431C>T ENSP00000501682.1:n.*431C>T
ENST00000675272.1:n.6012C>T
ENST00000675284.1:c.1714C>T ENSP00000502758.1:p.Gln572Ter
ENST00000675301.1:n.371C>T
ENST00000675311.1:c.*916C>T ENSP00000501961.1:n.*916C>T
ENST00000675426.1:c.*782C>T ENSP00000501819.1:n.*782C>T
ENST00000675523.1:c.1483C>T ENSP00000502384.1:p.Gln495Ter
ENST00000675552.1:c.*833C>T ENSP00000502197.1:n.*833C>T
ENST00000675681.1:c.1714C>T ENSP00000502705.1:p.Gln572Ter
ENST00000675714.1:c.1714C>T ENSP00000502561.1:p.Gln572Ter
ENST00000675726.1:c.1714C>T ENSP00000502452.1:p.Gln572Ter
ENST00000675772.1:c.1714C>T ENSP00000501678.1:p.Gln572Ter
ENST00000675831.1:c.1321C>T ENSP00000502382.1:p.Gln441Ter
ENST00000675847.1:n.1838C>T
ENST00000675849.1:n.1336C>T
ENST00000675879.1:c.443C>T
ENST00000675887.1:c.*1317C>T ENSP00000502123.1:n.*1317C>T
ENST00000675973.1:c.1585C>T ENSP00000502407.1:p.Gln529Ter
ENST00000675991.1:c.*833C>T ENSP00000502162.1:n.*833C>T
ENST00000675994.1:c.*833C>T ENSP00000502419.1:n.*833C>T
ENST00000676021.1:c.*431C>T ENSP00000502746.1:n.*431C>T
ENST00000676037.1:c.1714C>T ENSP00000502181.1:p.Gln572Ter
ENST00000676136.1:n.1854C>T
ENST00000676442.1:c.1585C>T ENSP00000502595.1:p.Gln529Ter
XM_011536281.1:c.1651C>T XP_011534583.1:p.Gln551Ter
XM_011536281.3:c.1651C>T XP_011534583.1:p.Gln551Ter
XM_017011591.2:c.1714C>T XP_016867080.1:p.Gln572Ter
XM_017011592.1:c.1165C>T XP_016867081.1:p.Gln389Ter
XM_017011593.2:c.784C>T XP_016867082.1:p.Gln262Ter