Canonical Allele Identifier: CA365231572
Community Standard Title: NM_014845.6(FIG4):c.1904G>A (p.Trp635Ter)
Gene: FIG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.109784984G>A , CM000668.2:g.109784984G>A GRCh38
NC_000006.11:g.110106187G>A , CM000668.1:g.110106187G>A GRCh37
NC_000006.10:g.110212880G>A NCBI36
NG_007977.1:g.98764G>A , LRG_241:g.98764G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014845.6:c.1904G>A MANE Select NP_055660.1:p.Trp635Ter
ENST00000230124.8:c.1904G>A MANE Select ENSP00000230124.4:p.Trp635Ter
NM_014845.5:c.1904G>A , LRG_241t1:c.1904G>A NP_055660.1:p.Trp635Ter
ENST00000230124.7:c.1904G>A ENSP00000230124.3:p.Trp635Ter
ENST00000415980.1:c.321G>A
ENST00000415980.2:c.410G>A ENSP00000405660.2:p.Trp137Ter
ENST00000674532.1:n.5100G>A
ENST00000674557.1:c.*1197G>A ENSP00000501608.1:n.*1197G>A
ENST00000674569.1:c.*1023G>A ENSP00000502769.1:n.*1023G>A
ENST00000674571.1:c.*1023G>A ENSP00000501633.1:n.*1023G>A
ENST00000674575.1:c.*1023G>A ENSP00000502276.1:n.*1023G>A
ENST00000674641.1:c.1559G>A ENSP00000501609.1:p.Trp520Ter
ENST00000674644.1:c.974G>A ENSP00000502201.1:p.Trp325Ter
ENST00000674649.1:c.*1597G>A ENSP00000501669.1:n.*1597G>A
ENST00000674657.1:c.*1336G>A ENSP00000502314.1:n.*1336G>A
ENST00000674744.1:c.1898G>A ENSP00000501661.1:p.Trp633Ter
ENST00000674778.1:c.*1023G>A ENSP00000502742.1:n.*1023G>A
ENST00000674783.1:c.*819G>A ENSP00000502755.1:n.*819G>A
ENST00000674884.1:c.1922G>A ENSP00000502668.1:p.Trp641Ter
ENST00000674930.1:c.*1029G>A ENSP00000502657.1:n.*1029G>A
ENST00000674933.1:c.1673G>A ENSP00000502376.1:p.Trp558Ter
ENST00000674956.1:c.*1118G>A ENSP00000501904.1:n.*1118G>A
ENST00000675004.1:c.*1856G>A ENSP00000501868.1:n.*1856G>A
ENST00000675009.1:c.*1288G>A ENSP00000502098.1:n.*1288G>A
ENST00000675096.1:c.1890-4610G>A ENSP00000502116.1:n.1890-4610G>A
ENST00000675122.1:c.1904G>A ENSP00000501810.1:p.Trp635Ter
ENST00000675153.1:c.*621G>A ENSP00000501682.1:n.*621G>A
ENST00000675272.1:n.6202G>A
ENST00000675284.1:c.1904G>A ENSP00000502758.1:p.Trp635Ter
ENST00000675301.1:n.561G>A
ENST00000675311.1:c.*1106G>A ENSP00000501961.1:n.*1106G>A
ENST00000675426.1:c.*972G>A ENSP00000501819.1:n.*972G>A
ENST00000675523.1:c.1673G>A ENSP00000502384.1:p.Trp558Ter
ENST00000675552.1:c.*1023G>A ENSP00000502197.1:n.*1023G>A
ENST00000675714.1:c.1904G>A ENSP00000502561.1:p.Trp635Ter
ENST00000675726.1:c.1904G>A ENSP00000502452.1:p.Trp635Ter
ENST00000675772.1:c.1904G>A ENSP00000501678.1:p.Trp635Ter
ENST00000675831.1:c.1511G>A ENSP00000502382.1:p.Trp504Ter
ENST00000675849.1:n.1526G>A
ENST00000675879.1:c.633G>A
ENST00000675887.1:c.*1507G>A ENSP00000502123.1:n.*1507G>A
ENST00000675954.1:n.3237G>A
ENST00000675991.1:c.*1023G>A ENSP00000502162.1:n.*1023G>A
ENST00000675994.1:c.*884G>A ENSP00000502419.1:n.*884G>A
ENST00000676021.1:c.*482G>A ENSP00000502746.1:n.*482G>A
ENST00000676037.1:c.1904G>A ENSP00000502181.1:p.Trp635Ter
ENST00000676136.1:n.2044G>A
ENST00000676442.1:c.1775G>A ENSP00000502595.1:p.Trp592Ter
XM_011536281.1:c.1841G>A XP_011534583.1:p.Trp614Ter
XM_011536281.3:c.1841G>A XP_011534583.1:p.Trp614Ter
XM_017011591.2:c.1904G>A XP_016867080.1:p.Trp635Ter
XM_017011592.1:c.1355G>A XP_016867081.1:p.Trp452Ter
XM_017011593.2:c.974G>A XP_016867082.1:p.Trp325Ter