Canonical Allele Identifier: CA365231534
Community Standard Title: NM_014845.6(FIG4):c.1890-2A>G
Gene: FIG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.109784968A>G , CM000668.2:g.109784968A>G GRCh38
NC_000006.11:g.110106171A>G , CM000668.1:g.110106171A>G GRCh37
NC_000006.10:g.110212864A>G NCBI36
NG_007977.1:g.98748A>G , LRG_241:g.98748A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014845.6:c.1890-2A>G MANE Select NP_055660.1:n.1890-2A>G
ENST00000230124.8:c.1890-2A>G MANE Select ENSP00000230124.4:n.1890-2A>G
NM_014845.5:c.1890-2A>G , LRG_241t1:c.1890-2A>G NP_055660.1:n.1890-2A>G
ENST00000230124.7:c.1890-2A>G ENSP00000230124.3:n.1890-2A>G
ENST00000415980.1:c.307-2A>G
ENST00000415980.2:c.396-2A>G ENSP00000405660.2:n.396-2A>G
ENST00000674532.1:n.5086-2A>G
ENST00000674557.1:c.*1183-2A>G ENSP00000501608.1:n.*1183-2A>G
ENST00000674569.1:c.*1009-2A>G ENSP00000502769.1:n.*1009-2A>G
ENST00000674571.1:c.*1009-2A>G ENSP00000501633.1:n.*1009-2A>G
ENST00000674575.1:c.*1009-2A>G ENSP00000502276.1:n.*1009-2A>G
ENST00000674641.1:c.1545-2A>G ENSP00000501609.1:n.1545-2A>G
ENST00000674644.1:c.960-2A>G ENSP00000502201.1:n.960-2A>G
ENST00000674649.1:c.*1583-2A>G ENSP00000501669.1:n.*1583-2A>G
ENST00000674657.1:c.*1322-2A>G ENSP00000502314.1:n.*1322-2A>G
ENST00000674744.1:c.1884-2A>G ENSP00000501661.1:n.1884-2A>G
ENST00000674778.1:c.*1009-2A>G ENSP00000502742.1:n.*1009-2A>G
ENST00000674783.1:c.*805-2A>G ENSP00000502755.1:n.*805-2A>G
ENST00000674884.1:c.1908-2A>G ENSP00000502668.1:n.1908-2A>G
ENST00000674930.1:c.*1015-2A>G ENSP00000502657.1:n.*1015-2A>G
ENST00000674933.1:c.1659-2A>G ENSP00000502376.1:n.1659-2A>G
ENST00000674956.1:c.*1104-2A>G ENSP00000501904.1:n.*1104-2A>G
ENST00000675004.1:c.*1842-2A>G ENSP00000501868.1:n.*1842-2A>G
ENST00000675009.1:c.*1274-2A>G ENSP00000502098.1:n.*1274-2A>G
ENST00000675096.1:c.1890-4626A>G ENSP00000502116.1:n.1890-4626A>G
ENST00000675122.1:c.1890-2A>G ENSP00000501810.1:n.1890-2A>G
ENST00000675153.1:c.*607-2A>G ENSP00000501682.1:n.*607-2A>G
ENST00000675272.1:n.6188-2A>G
ENST00000675284.1:c.1890-2A>G ENSP00000502758.1:n.1890-2A>G
ENST00000675301.1:n.547-2A>G
ENST00000675311.1:c.*1092-2A>G ENSP00000501961.1:n.*1092-2A>G
ENST00000675426.1:c.*958-2A>G ENSP00000501819.1:n.*958-2A>G
ENST00000675523.1:c.1659-2A>G ENSP00000502384.1:n.1659-2A>G
ENST00000675552.1:c.*1009-2A>G ENSP00000502197.1:n.*1009-2A>G
ENST00000675714.1:c.1890-2A>G ENSP00000502561.1:n.1890-2A>G
ENST00000675726.1:c.1890-2A>G ENSP00000502452.1:n.1890-2A>G
ENST00000675772.1:c.1890-2A>G ENSP00000501678.1:n.1890-2A>G
ENST00000675831.1:c.1497-2A>G ENSP00000502382.1:n.1497-2A>G
ENST00000675849.1:n.1512-2A>G
ENST00000675879.1:c.619-2A>G
ENST00000675887.1:c.*1493-2A>G ENSP00000502123.1:n.*1493-2A>G
ENST00000675954.1:n.3223-2A>G
ENST00000675991.1:c.*1009-2A>G ENSP00000502162.1:n.*1009-2A>G
ENST00000675994.1:c.*870-2A>G ENSP00000502419.1:n.*870-2A>G
ENST00000676021.1:c.*468-2A>G ENSP00000502746.1:n.*468-2A>G
ENST00000676037.1:c.1890-2A>G ENSP00000502181.1:n.1890-2A>G
ENST00000676136.1:n.2030-2A>G
ENST00000676442.1:c.1761-2A>G ENSP00000502595.1:n.1761-2A>G
XM_011536281.1:c.1827-2A>G XP_011534583.1:n.1827-2A>G
XM_011536281.3:c.1827-2A>G XP_011534583.1:n.1827-2A>G
XM_017011591.2:c.1890-2A>G XP_016867080.1:n.1890-2A>G
XM_017011592.1:c.1341-2A>G XP_016867081.1:n.1341-2A>G
XM_017011593.2:c.960-2A>G XP_016867082.1:n.960-2A>G