Canonical Allele Identifier: CA365217766
Community Standard Title: NM_014845.6(FIG4):c.2432C>G (p.Ser811Ter)
Gene: FIG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.109792637C>G , CM000668.2:g.109792637C>G GRCh38
NC_000006.11:g.110113840C>G , CM000668.1:g.110113840C>G GRCh37
NC_000006.10:g.110220533C>G NCBI36
NG_007977.1:g.106417C>G , LRG_241:g.106417C>G

Transcript Alleles

HGVS Amino-acid Change
NM_014845.6:c.2432C>G MANE Select NP_055660.1:p.Ser811Ter
ENST00000230124.8:c.2432C>G MANE Select ENSP00000230124.4:p.Ser811Ter
NM_014845.5:c.2432C>G , LRG_241t1:c.2432C>G NP_055660.1:p.Ser811Ter
ENST00000230124.7:c.2432C>G ENSP00000230124.3:p.Ser811Ter
ENST00000415980.2:c.938C>G ENSP00000405660.2:p.Ser313Ter
ENST00000419951.2:n.780C>G
ENST00000674532.1:n.5628C>G
ENST00000674557.1:c.*1725C>G ENSP00000501608.1:n.*1725C>G
ENST00000674569.1:c.*1551C>G ENSP00000502769.1:n.*1551C>G
ENST00000674571.1:c.*1551C>G ENSP00000501633.1:n.*1551C>G
ENST00000674575.1:c.*1551C>G ENSP00000502276.1:n.*1551C>G
ENST00000674641.1:c.2087C>G ENSP00000501609.1:p.Ser696Ter
ENST00000674649.1:c.*2125C>G ENSP00000501669.1:n.*2125C>G
ENST00000674657.1:c.*1864C>G ENSP00000502314.1:n.*1864C>G
ENST00000674744.1:c.2426C>G ENSP00000501661.1:p.Ser809Ter
ENST00000674778.1:c.*1650C>G ENSP00000502742.1:n.*1650C>G
ENST00000674783.1:c.*1347C>G ENSP00000502755.1:n.*1347C>G
ENST00000674884.1:c.2450C>G ENSP00000502668.1:p.Ser817Ter
ENST00000674930.1:c.*1557C>G ENSP00000502657.1:n.*1557C>G
ENST00000674933.1:c.2201C>G ENSP00000502376.1:p.Ser734Ter
ENST00000674956.1:c.*1646C>G ENSP00000501904.1:n.*1646C>G
ENST00000675004.1:c.*2384C>G ENSP00000501868.1:n.*2384C>G
ENST00000675009.1:c.*1816C>G ENSP00000502098.1:n.*1816C>G
ENST00000675096.1:c.2225C>G ENSP00000502116.1:p.Ser742Ter
ENST00000675122.1:c.*539C>G ENSP00000501810.1:n.*539C>G
ENST00000675153.1:c.*1149C>G ENSP00000501682.1:n.*1149C>G
ENST00000675254.1:n.3891C>G
ENST00000675272.1:n.6730C>G
ENST00000675284.1:c.2432C>G ENSP00000502758.1:p.Ser811Ter
ENST00000675301.1:n.1089C>G
ENST00000675311.1:c.*1634C>G ENSP00000501961.1:n.*1634C>G
ENST00000675426.1:c.*1500C>G ENSP00000501819.1:n.*1500C>G
ENST00000675523.1:c.2201C>G ENSP00000502384.1:p.Ser734Ter
ENST00000675552.1:c.*4695C>G ENSP00000502197.1:n.*4695C>G
ENST00000675726.1:c.2432C>G ENSP00000502452.1:p.Ser811Ter
ENST00000675772.1:c.2432C>G ENSP00000501678.1:p.Ser811Ter
ENST00000675831.1:c.2039C>G ENSP00000502382.1:p.Ser680Ter
ENST00000675849.1:n.2054C>G
ENST00000675879.1:c.1277C>G
ENST00000675954.1:n.3765C>G
ENST00000675991.1:c.*4259C>G ENSP00000502162.1:n.*4259C>G
ENST00000675994.1:c.*1571C>G ENSP00000502419.1:n.*1571C>G
ENST00000676021.1:c.*1010C>G ENSP00000502746.1:n.*1010C>G
ENST00000676037.1:c.*359C>G ENSP00000502181.1:n.*359C>G
ENST00000676136.1:n.5079C>G
ENST00000676246.1:n.322C>G
ENST00000676442.1:c.2303C>G ENSP00000502595.1:p.Ser768Ter
XM_011536281.1:c.2369C>G XP_011534583.1:p.Ser790Ter
XM_011536281.3:c.2369C>G XP_011534583.1:p.Ser790Ter
XM_017011592.1:c.1883C>G XP_016867081.1:p.Ser628Ter
XM_017011593.2:c.1502C>G XP_016867082.1:p.Ser501Ter