Canonical Allele Identifier: CA3956286
Gene: FIG4 HGNC NCBI

Linked Data

ClinVar Variation Id: 260448
dbSNP Id: rs142482745

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.109789584C>G , CM000668.2:g.109789584C>G GRCh38
NC_000006.11:g.110110787C>G , CM000668.1:g.110110787C>G GRCh37
NC_000006.10:g.110217480C>G NCBI36
NG_007977.1:g.103364C>G , LRG_241:g.103364C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230124.8:c.2097-10C>G MANE Select ENSP00000230124.4:n.2097-10C>G
ENST00000415980.2:c.603-10C>G ENSP00000405660.2:n.603-10C>G
ENST00000419951.2:n.445-10C>G
ENST00000674532.1:n.5293-10C>G
ENST00000674557.1:c.*1390-10C>G ENSP00000501608.1:n.*1390-10C>G
ENST00000674569.1:c.*1216-10C>G ENSP00000502769.1:n.*1216-10C>G
ENST00000674571.1:c.*1216-10C>G ENSP00000501633.1:n.*1216-10C>G
ENST00000674575.1:c.*1216-10C>G ENSP00000502276.1:n.*1216-10C>G
ENST00000674641.1:c.1752-10C>G ENSP00000501609.1:n.1752-10C>G
ENST00000674644.1:c.1167-10C>G ENSP00000502201.1:n.1167-10C>G
ENST00000674649.1:c.*1790-10C>G ENSP00000501669.1:n.*1790-10C>G
ENST00000674657.1:c.*1529-10C>G ENSP00000502314.1:n.*1529-10C>G
ENST00000674744.1:c.2091-10C>G ENSP00000501661.1:n.2091-10C>G
ENST00000674778.1:c.*1315-10C>G ENSP00000502742.1:n.*1315-10C>G
ENST00000674783.1:c.*1012-10C>G ENSP00000502755.1:n.*1012-10C>G
ENST00000674884.1:c.2115-10C>G ENSP00000502668.1:n.2115-10C>G
ENST00000674930.1:c.*1222-10C>G ENSP00000502657.1:n.*1222-10C>G
ENST00000674933.1:c.1866-10C>G ENSP00000502376.1:n.1866-10C>G
ENST00000674956.1:c.*1311-10C>G ENSP00000501904.1:n.*1311-10C>G
ENST00000675004.1:c.*2049-10C>G ENSP00000501868.1:n.*2049-10C>G
ENST00000675009.1:c.*1481-10C>G ENSP00000502098.1:n.*1481-10C>G
ENST00000675096.1:c.1890-10C>G ENSP00000502116.1:n.1890-10C>G
ENST00000675122.1:c.*204-10C>G ENSP00000501810.1:n.*204-10C>G
ENST00000675153.1:c.*814-10C>G ENSP00000501682.1:n.*814-10C>G
ENST00000675254.1:n.838C>G
ENST00000675272.1:n.6395-10C>G
ENST00000675284.1:c.2097-10C>G ENSP00000502758.1:n.2097-10C>G
ENST00000675301.1:n.754-10C>G
ENST00000675311.1:c.*1299-10C>G ENSP00000501961.1:n.*1299-10C>G
ENST00000675426.1:c.*1165-10C>G ENSP00000501819.1:n.*1165-10C>G
ENST00000675523.1:c.1866-10C>G ENSP00000502384.1:n.1866-10C>G
ENST00000675552.1:c.*4350C>G ENSP00000502197.1:n.*4350C>G
ENST00000675714.1:c.2097-10C>G ENSP00000502561.1:n.2097-10C>G
ENST00000675726.1:c.2097-10C>G ENSP00000502452.1:n.2097-10C>G
ENST00000675772.1:c.2097-10C>G ENSP00000501678.1:n.2097-10C>G
ENST00000675831.1:c.1704-10C>G ENSP00000502382.1:n.1704-10C>G
ENST00000675849.1:n.1719-10C>G
ENST00000675879.1:c.942-10C>G
ENST00000675887.1:c.*1700-10C>G ENSP00000502123.1:n.*1700-10C>G
ENST00000675954.1:n.3430-10C>G
ENST00000675991.1:c.*1216-10C>G ENSP00000502162.1:n.*1216-10C>G
ENST00000675994.1:c.*1236-10C>G ENSP00000502419.1:n.*1236-10C>G
ENST00000676021.1:c.*675-10C>G ENSP00000502746.1:n.*675-10C>G
ENST00000676037.1:c.*24-10C>G ENSP00000502181.1:n.*24-10C>G
ENST00000676136.1:n.4744-10C>G
ENST00000676442.1:c.1968-10C>G ENSP00000502595.1:n.1968-10C>G
ENST00000230124.7:c.2097-10C>G ENSP00000230124.3:n.2097-10C>G
ENST00000419951.1:c.18-10C>G ENSP00000396566.1:n.18-10C>G
NM_014845.5:c.2097-10C>G , LRG_241t1:c.2097-10C>G NP_055660.1:n.2097-10C>G
XM_011536281.1:c.2034-10C>G XP_011534583.1:n.2034-10C>G
XM_011536281.3:c.2034-10C>G XP_011534583.1:n.2034-10C>G
XM_017011592.1:c.1548-10C>G XP_016867081.1:n.1548-10C>G
XM_017011593.2:c.1167-10C>G XP_016867082.1:n.1167-10C>G
NM_014845.6:c.2097-10C>G MANE Select NP_055660.1:n.2097-10C>G