Canonical Allele Identifier: CA290935
Gene: FIG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.109786314T>C , CM000668.2:g.109786314T>C GRCh38
NC_000006.11:g.110107517T>C , CM000668.1:g.110107517T>C GRCh37
NC_000006.10:g.110214210T>C NCBI36
NG_007977.1:g.100094T>C , LRG_241:g.100094T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230124.8:c.1961T>C MANE Select ENSP00000230124.4:p.Val654Ala
ENST00000415980.2:c.467T>C ENSP00000405660.2:p.Val156Ala
ENST00000419951.2:n.309T>C
ENST00000674532.1:n.5157T>C
ENST00000674557.1:c.*1254T>C ENSP00000501608.1:n.*1254T>C
ENST00000674569.1:c.*1080T>C ENSP00000502769.1:n.*1080T>C
ENST00000674571.1:c.*1080T>C ENSP00000501633.1:n.*1080T>C
ENST00000674575.1:c.*1080T>C ENSP00000502276.1:n.*1080T>C
ENST00000674641.1:c.1616T>C ENSP00000501609.1:p.Val539Ala
ENST00000674644.1:c.1031T>C ENSP00000502201.1:p.Val344Ala
ENST00000674649.1:c.*1654T>C ENSP00000501669.1:n.*1654T>C
ENST00000674657.1:c.*1393T>C ENSP00000502314.1:n.*1393T>C
ENST00000674744.1:c.1955T>C ENSP00000501661.1:p.Val652Ala
ENST00000674778.1:c.*1179T>C ENSP00000502742.1:n.*1179T>C
ENST00000674783.1:c.*876T>C ENSP00000502755.1:n.*876T>C
ENST00000674884.1:c.1979T>C ENSP00000502668.1:p.Val660Ala
ENST00000674930.1:c.*1086T>C ENSP00000502657.1:n.*1086T>C
ENST00000674933.1:c.1730T>C ENSP00000502376.1:p.Val577Ala
ENST00000674956.1:c.*1175T>C ENSP00000501904.1:n.*1175T>C
ENST00000675004.1:c.*1913T>C ENSP00000501868.1:n.*1913T>C
ENST00000675009.1:c.*1345T>C ENSP00000502098.1:n.*1345T>C
ENST00000675096.1:c.1890-3280T>C ENSP00000502116.1:n.1890-3280T>C
ENST00000675122.1:c.*68T>C ENSP00000501810.1:n.*68T>C
ENST00000675153.1:c.*678T>C ENSP00000501682.1:n.*678T>C
ENST00000675272.1:n.6259T>C
ENST00000675284.1:c.1961T>C ENSP00000502758.1:p.Val654Ala
ENST00000675301.1:n.618T>C
ENST00000675311.1:c.*1163T>C ENSP00000501961.1:n.*1163T>C
ENST00000675426.1:c.*1029T>C ENSP00000501819.1:n.*1029T>C
ENST00000675523.1:c.1730T>C ENSP00000502384.1:p.Val577Ala
ENST00000675552.1:c.*1080T>C ENSP00000502197.1:n.*1080T>C
ENST00000675714.1:c.1961T>C ENSP00000502561.1:p.Val654Ala
ENST00000675726.1:c.1961T>C ENSP00000502452.1:p.Val654Ala
ENST00000675772.1:c.1961T>C ENSP00000501678.1:p.Val654Ala
ENST00000675831.1:c.1568T>C ENSP00000502382.1:p.Val523Ala
ENST00000675849.1:n.1583T>C
ENST00000675879.1:c.690T>C
ENST00000675887.1:c.*1564T>C ENSP00000502123.1:n.*1564T>C
ENST00000675954.1:n.3294T>C
ENST00000675991.1:c.*1080T>C ENSP00000502162.1:n.*1080T>C
ENST00000675994.1:c.*941T>C ENSP00000502419.1:n.*941T>C
ENST00000676021.1:c.*539T>C ENSP00000502746.1:n.*539T>C
ENST00000676037.1:c.1961T>C ENSP00000502181.1:p.Val654Ala
ENST00000676136.1:n.2101T>C
ENST00000676442.1:c.1832T>C ENSP00000502595.1:p.Val611Ala
ENST00000230124.7:c.1961T>C ENSP00000230124.3:p.Val654Ala
ENST00000419951.1:c.-119T>C ENSP00000396566.1:n.-119T>C
NM_014845.5:c.1961T>C , LRG_241t1:c.1961T>C NP_055660.1:p.Val654Ala
XM_011536281.1:c.1898T>C XP_011534583.1:p.Val633Ala
XM_011536281.3:c.1898T>C XP_011534583.1:p.Val633Ala
XM_017011591.2:c.1961T>C XP_016867080.1:p.Val654Ala
XM_017011592.1:c.1412T>C XP_016867081.1:p.Val471Ala
XM_017011593.2:c.1031T>C XP_016867082.1:p.Val344Ala
NM_014845.6:c.1961T>C MANE Select NP_055660.1:p.Val654Ala