Canonical Allele Identifier: CA451754547

Gene: FIG4

Linked Data

• gnomAD v3: 6-109792587-G-T
• gnomAD v4: 6-109792587-G-T
• MyVariant Identifiers: chr6:g.110113790G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792587G>T , CM000668.2:g.109792587G>T	GRCh38
NC_000006.11:g.110113790G>T , CM000668.1:g.110113790G>T	GRCh37
NC_000006.10:g.110220483G>T	NCBI36
NG_007977.1:g.106367G>T , LRG_241:g.106367G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2382G>T MANE Select	ENSP00000230124.4:p.Val794=
ENST00000415980.2:c.888G>T	ENSP00000405660.2:p.Val296=
ENST00000419951.2:n.730G>T
ENST00000674532.1:n.5578G>T
ENST00000674557.1:c.*1675G>T	ENSP00000501608.1:n.*1675G>T
ENST00000674569.1:c.*1501G>T	ENSP00000502769.1:n.*1501G>T
ENST00000674571.1:c.*1501G>T	ENSP00000501633.1:n.*1501G>T
ENST00000674575.1:c.*1501G>T	ENSP00000502276.1:n.*1501G>T
ENST00000674641.1:c.2037G>T	ENSP00000501609.1:p.Val679=
ENST00000674644.1:c.1452G>T	ENSP00000502201.1:p.Val484=
ENST00000674649.1:c.*2075G>T	ENSP00000501669.1:n.*2075G>T
ENST00000674657.1:c.*1814G>T	ENSP00000502314.1:n.*1814G>T
ENST00000674744.1:c.2376G>T	ENSP00000501661.1:p.Val792=
ENST00000674778.1:c.*1600G>T	ENSP00000502742.1:n.*1600G>T
ENST00000674783.1:c.*1297G>T	ENSP00000502755.1:n.*1297G>T
ENST00000674884.1:c.2400G>T	ENSP00000502668.1:p.Val800=
ENST00000674930.1:c.*1507G>T	ENSP00000502657.1:n.*1507G>T
ENST00000674933.1:c.2151G>T	ENSP00000502376.1:p.Val717=
ENST00000674956.1:c.*1596G>T	ENSP00000501904.1:n.*1596G>T
ENST00000675004.1:c.*2334G>T	ENSP00000501868.1:n.*2334G>T
ENST00000675009.1:c.*1766G>T	ENSP00000502098.1:n.*1766G>T
ENST00000675096.1:c.2175G>T	ENSP00000502116.1:p.Val725=
ENST00000675122.1:c.*489G>T	ENSP00000501810.1:n.*489G>T
ENST00000675153.1:c.*1099G>T	ENSP00000501682.1:n.*1099G>T
ENST00000675254.1:n.3841G>T
ENST00000675272.1:n.6680G>T
ENST00000675284.1:c.2382G>T	ENSP00000502758.1:p.Val794=
ENST00000675301.1:n.1039G>T
ENST00000675311.1:c.*1584G>T	ENSP00000501961.1:n.*1584G>T
ENST00000675426.1:c.*1450G>T	ENSP00000501819.1:n.*1450G>T
ENST00000675523.1:c.2151G>T	ENSP00000502384.1:p.Val717=
ENST00000675552.1:c.*4645G>T	ENSP00000502197.1:n.*4645G>T
ENST00000675726.1:c.2382G>T	ENSP00000502452.1:p.Val794=
ENST00000675772.1:c.2382G>T	ENSP00000501678.1:p.Val794=
ENST00000675831.1:c.1989G>T	ENSP00000502382.1:p.Val663=
ENST00000675849.1:n.2004G>T
ENST00000675879.1:c.1227G>T
ENST00000675887.1:c.*1985G>T	ENSP00000502123.1:n.*1985G>T
ENST00000675954.1:n.3715G>T
ENST00000675991.1:c.*4209G>T	ENSP00000502162.1:n.*4209G>T
ENST00000675994.1:c.*1521G>T	ENSP00000502419.1:n.*1521G>T
ENST00000676021.1:c.*960G>T	ENSP00000502746.1:n.*960G>T
ENST00000676037.1:c.*309G>T	ENSP00000502181.1:n.*309G>T
ENST00000676136.1:n.5029G>T
ENST00000676246.1:n.272G>T
ENST00000676442.1:c.2253G>T	ENSP00000502595.1:p.Val751=
ENST00000230124.7:c.2382G>T	ENSP00000230124.3:p.Val794=
NM_014845.5:c.2382G>T , LRG_241t1:c.2382G>T	NP_055660.1:p.Val794=
XM_011536281.1:c.2319G>T	XP_011534583.1:p.Val773=
XM_011536281.3:c.2319G>T	XP_011534583.1:p.Val773=
XM_017011592.1:c.1833G>T	XP_016867081.1:p.Val611=
XM_017011593.2:c.1452G>T	XP_016867082.1:p.Val484=
NM_014845.6:c.2382G>T MANE Select	NP_055660.1:p.Val794=