Canonical Allele Identifier: CA3956463
Community Standard Title: NM_014845.6(FIG4):c.2599A>G (p.Arg867Gly)
Gene: FIG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.109825140A>G , CM000668.2:g.109825140A>G GRCh38
NC_000006.11:g.110146343A>G , CM000668.1:g.110146343A>G GRCh37
NC_000006.10:g.110253036A>G NCBI36
NG_007977.1:g.138920A>G , LRG_241:g.138920A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014845.6:c.2599A>G MANE Select NP_055660.1:p.Arg867Gly
ENST00000230124.8:c.2599A>G MANE Select ENSP00000230124.4:p.Arg867Gly
NM_014845.5:c.2599A>G , LRG_241t1:c.2599A>G NP_055660.1:p.Arg867Gly
ENST00000230124.7:c.2599A>G ENSP00000230124.3:p.Arg867Gly
ENST00000415980.2:c.1105A>G ENSP00000405660.2:p.Arg369Gly
ENST00000674532.1:n.5795A>G
ENST00000674557.1:c.*1892A>G ENSP00000501608.1:n.*1892A>G
ENST00000674569.1:c.*1718A>G ENSP00000502769.1:n.*1718A>G
ENST00000674571.1:c.*1743A>G ENSP00000501633.1:n.*1743A>G
ENST00000674573.1:n.1031A>G
ENST00000674575.1:c.*1718A>G ENSP00000502276.1:n.*1718A>G
ENST00000674641.1:c.2254A>G ENSP00000501609.1:p.Arg752Gly
ENST00000674649.1:c.*2292A>G ENSP00000501669.1:n.*2292A>G
ENST00000674657.1:c.*2031A>G ENSP00000502314.1:n.*2031A>G
ENST00000674744.1:c.2593A>G ENSP00000501661.1:p.Arg865Gly
ENST00000674778.1:c.*1817A>G ENSP00000502742.1:n.*1817A>G
ENST00000674783.1:c.*1514A>G ENSP00000502755.1:n.*1514A>G
ENST00000674884.1:c.2617A>G ENSP00000502668.1:p.Arg873Gly
ENST00000674930.1:c.*1637A>G ENSP00000502657.1:n.*1637A>G
ENST00000674933.1:c.2281A>G ENSP00000502376.1:p.Arg761Gly
ENST00000674956.1:c.*1813A>G ENSP00000501904.1:n.*1813A>G
ENST00000675004.1:c.*2464A>G ENSP00000501868.1:n.*2464A>G
ENST00000675009.1:c.*1983A>G ENSP00000502098.1:n.*1983A>G
ENST00000675096.1:c.2392A>G ENSP00000502116.1:p.Arg798Gly
ENST00000675122.1:c.*706A>G ENSP00000501810.1:n.*706A>G
ENST00000675153.1:c.*1316A>G ENSP00000501682.1:n.*1316A>G
ENST00000675272.1:n.6897A>G
ENST00000675301.1:n.1256A>G
ENST00000675311.1:c.*1801A>G ENSP00000501961.1:n.*1801A>G
ENST00000675426.1:c.*1667A>G ENSP00000501819.1:n.*1667A>G
ENST00000675523.1:c.2368A>G ENSP00000502384.1:p.Arg790Gly
ENST00000675552.1:c.*4862A>G ENSP00000502197.1:n.*4862A>G
ENST00000675726.1:c.2512A>G ENSP00000502452.1:p.Arg838Gly
ENST00000675772.1:c.2546+28289A>G ENSP00000501678.1:n.2546+28289A>G
ENST00000675831.1:c.2206A>G ENSP00000502382.1:p.Arg736Gly
ENST00000675849.1:n.2221A>G
ENST00000675879.1:c.1444A>G
ENST00000675954.1:n.3932A>G
ENST00000675991.1:c.*4426A>G ENSP00000502162.1:n.*4426A>G
ENST00000675994.1:c.*1738A>G ENSP00000502419.1:n.*1738A>G
ENST00000676021.1:c.*1177A>G ENSP00000502746.1:n.*1177A>G
ENST00000676037.1:c.*526A>G ENSP00000502181.1:n.*526A>G
ENST00000676136.1:n.5246A>G
ENST00000676442.1:c.2470A>G ENSP00000502595.1:p.Arg824Gly
XM_011536281.1:c.2536A>G XP_011534583.1:p.Arg846Gly
XM_011536281.3:c.2536A>G XP_011534583.1:p.Arg846Gly
XM_017011592.1:c.2050A>G XP_016867081.1:p.Arg684Gly
XM_017011593.2:c.1669A>G XP_016867082.1:p.Arg557Gly