Canonical Allele Identifier: CA451754366
Gene: FIG4 HGNC NCBI

Linked Data

ClinVar Variation Id: 857991
ClinVar RCV Id: RCV001063773
dbSNP Id: rs1775386908
MyVariant Identifiers: chr6:g.110036283A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.109715080A>G , CM000668.2:g.109715080A>G GRCh38
NC_000006.11:g.110036283A>G , CM000668.1:g.110036283A>G GRCh37
NC_000006.10:g.110142976A>G NCBI36
NG_007977.1:g.28860A>G , LRG_241:g.28860A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000230124.8:c.69A>G MANE Select ENSP00000230124.4:p.Arg23=
ENST00000368941.2:c.69A>G ENSP00000357937.2:p.Arg23=
ENST00000415980.2:c.-224+23579A>G ENSP00000405660.2:n.-224+23579A>G
ENST00000454215.6:c.69A>G ENSP00000412156.2:p.Arg23=
ENST00000674532.1:n.239A>G
ENST00000674557.1:c.69A>G ENSP00000501608.1:p.Arg23=
ENST00000674569.1:c.69A>G ENSP00000502769.1:p.Arg23=
ENST00000674571.1:c.69A>G ENSP00000501633.1:p.Arg23=
ENST00000674575.1:c.69A>G ENSP00000502276.1:p.Arg23=
ENST00000674614.1:n.193A>G
ENST00000674641.1:c.-56-12029A>G ENSP00000501609.1:n.-56-12029A>G
ENST00000674644.1:c.-254-17557A>G ENSP00000502201.1:n.-254-17557A>G
ENST00000674649.1:c.69A>G ENSP00000501669.1:p.Arg23=
ENST00000674657.1:c.69A>G ENSP00000502314.1:p.Arg23=
ENST00000674744.1:c.69A>G ENSP00000501661.1:p.Arg23=
ENST00000674778.1:c.69A>G ENSP00000502742.1:p.Arg23=
ENST00000674783.1:c.69A>G ENSP00000502755.1:p.Arg23=
ENST00000674830.1:n.40A>G
ENST00000674884.1:c.69A>G ENSP00000502668.1:p.Arg23=
ENST00000674930.1:c.69A>G ENSP00000502657.1:p.Arg23=
ENST00000674933.1:c.-163A>G ENSP00000502376.1:n.-163A>G
ENST00000674956.1:c.69A>G ENSP00000501904.1:p.Arg23=
ENST00000675002.1:n.157A>G
ENST00000675004.1:c.*21A>G ENSP00000501868.1:n.*21A>G
ENST00000675009.1:c.69A>G ENSP00000502098.1:p.Arg23=
ENST00000675096.1:c.69A>G ENSP00000502116.1:p.Arg23=
ENST00000675122.1:c.69A>G ENSP00000501810.1:p.Arg23=
ENST00000675153.1:c.69A>G ENSP00000501682.1:p.Arg23=
ENST00000675284.1:c.69A>G ENSP00000502758.1:p.Arg23=
ENST00000675311.1:c.69A>G ENSP00000501961.1:p.Arg23=
ENST00000675426.1:c.69A>G ENSP00000501819.1:p.Arg23=
ENST00000675523.1:c.-163A>G ENSP00000502384.1:n.-163A>G
ENST00000675552.1:c.69A>G ENSP00000502197.1:p.Arg23=
ENST00000675606.1:c.-163A>G ENSP00000501583.1:n.-163A>G
ENST00000675681.1:c.69A>G ENSP00000502705.1:p.Arg23=
ENST00000675714.1:c.69A>G ENSP00000502561.1:p.Arg23=
ENST00000675726.1:c.69A>G ENSP00000502452.1:p.Arg23=
ENST00000675772.1:c.69A>G ENSP00000501678.1:p.Arg23=
ENST00000675831.1:c.69A>G ENSP00000502382.1:p.Arg23=
ENST00000675844.1:c.-163A>G ENSP00000502353.1:n.-163A>G
ENST00000675847.1:n.193A>G
ENST00000675887.1:c.69A>G ENSP00000502123.1:p.Arg23=
ENST00000675973.1:c.69A>G ENSP00000502407.1:p.Arg23=
ENST00000675991.1:c.69A>G ENSP00000502162.1:p.Arg23=
ENST00000675994.1:c.69A>G ENSP00000502419.1:p.Arg23=
ENST00000676021.1:c.69A>G ENSP00000502746.1:p.Arg23=
ENST00000676037.1:c.69A>G ENSP00000502181.1:p.Arg23=
ENST00000676136.1:n.209A>G
ENST00000676435.1:c.69A>G ENSP00000502614.1:p.Arg23=
ENST00000676442.1:c.69A>G ENSP00000502595.1:p.Arg23=
ENST00000230124.7:c.69A>G ENSP00000230124.3:p.Arg23=
ENST00000454215.5:c.6A>G ENSP00000412156.1:p.Arg2=
NM_014845.5:c.69A>G , LRG_241t1:c.69A>G NP_055660.1:p.Arg23=
XM_011536281.1:c.6A>G XP_011534583.1:p.Arg2=
XM_011536281.3:c.6A>G XP_011534583.1:p.Arg2=
XM_017011591.2:c.69A>G XP_016867080.1:p.Arg23=
XM_017011592.1:c.-324A>G XP_016867081.1:n.-324A>G
XM_017011593.2:c.-632A>G XP_016867082.1:n.-632A>G
NM_014845.6:c.69A>G MANE Select NP_055660.1:p.Arg23=