Canonical Allele Identifier: CA365217134

Gene: FIG4

Linked Data

• gnomAD v4: 6-109792593-A-T
• MyVariant Identifiers: chr6:g.110113796A>T (hg19) ; chr6:g.109792593A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792593A>T , CM000668.2:g.109792593A>T	GRCh38
NC_000006.11:g.110113796A>T , CM000668.1:g.110113796A>T	GRCh37
NC_000006.10:g.110220489A>T	NCBI36
NG_007977.1:g.106373A>T , LRG_241:g.106373A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.2388A>T MANE Select	ENSP00000230124.4:p.Gln796His
ENST00000415980.2:c.894A>T	ENSP00000405660.2:p.Gln298His
ENST00000419951.2:n.736A>T
ENST00000674532.1:n.5584A>T
ENST00000674557.1:c.*1681A>T	ENSP00000501608.1:n.*1681A>T
ENST00000674569.1:c.*1507A>T	ENSP00000502769.1:n.*1507A>T
ENST00000674571.1:c.*1507A>T	ENSP00000501633.1:n.*1507A>T
ENST00000674575.1:c.*1507A>T	ENSP00000502276.1:n.*1507A>T
ENST00000674641.1:c.2043A>T	ENSP00000501609.1:p.Gln681His
ENST00000674644.1:c.1458A>T	ENSP00000502201.1:p.Gln486His
ENST00000674649.1:c.*2081A>T	ENSP00000501669.1:n.*2081A>T
ENST00000674657.1:c.*1820A>T	ENSP00000502314.1:n.*1820A>T
ENST00000674744.1:c.2382A>T	ENSP00000501661.1:p.Gln794His
ENST00000674778.1:c.*1606A>T	ENSP00000502742.1:n.*1606A>T
ENST00000674783.1:c.*1303A>T	ENSP00000502755.1:n.*1303A>T
ENST00000674884.1:c.2406A>T	ENSP00000502668.1:p.Gln802His
ENST00000674930.1:c.*1513A>T	ENSP00000502657.1:n.*1513A>T
ENST00000674933.1:c.2157A>T	ENSP00000502376.1:p.Gln719His
ENST00000674956.1:c.*1602A>T	ENSP00000501904.1:n.*1602A>T
ENST00000675004.1:c.*2340A>T	ENSP00000501868.1:n.*2340A>T
ENST00000675009.1:c.*1772A>T	ENSP00000502098.1:n.*1772A>T
ENST00000675096.1:c.2181A>T	ENSP00000502116.1:p.Gln727His
ENST00000675122.1:c.*495A>T	ENSP00000501810.1:n.*495A>T
ENST00000675153.1:c.*1105A>T	ENSP00000501682.1:n.*1105A>T
ENST00000675254.1:n.3847A>T
ENST00000675272.1:n.6686A>T
ENST00000675284.1:c.2388A>T	ENSP00000502758.1:p.Gln796His
ENST00000675301.1:n.1045A>T
ENST00000675311.1:c.*1590A>T	ENSP00000501961.1:n.*1590A>T
ENST00000675426.1:c.*1456A>T	ENSP00000501819.1:n.*1456A>T
ENST00000675523.1:c.2157A>T	ENSP00000502384.1:p.Gln719His
ENST00000675552.1:c.*4651A>T	ENSP00000502197.1:n.*4651A>T
ENST00000675726.1:c.2388A>T	ENSP00000502452.1:p.Gln796His
ENST00000675772.1:c.2388A>T	ENSP00000501678.1:p.Gln796His
ENST00000675831.1:c.1995A>T	ENSP00000502382.1:p.Gln665His
ENST00000675849.1:n.2010A>T
ENST00000675879.1:c.1233A>T
ENST00000675887.1:c.*1991A>T	ENSP00000502123.1:n.*1991A>T
ENST00000675954.1:n.3721A>T
ENST00000675991.1:c.*4215A>T	ENSP00000502162.1:n.*4215A>T
ENST00000675994.1:c.*1527A>T	ENSP00000502419.1:n.*1527A>T
ENST00000676021.1:c.*966A>T	ENSP00000502746.1:n.*966A>T
ENST00000676037.1:c.*315A>T	ENSP00000502181.1:n.*315A>T
ENST00000676136.1:n.5035A>T
ENST00000676246.1:n.278A>T
ENST00000676442.1:c.2259A>T	ENSP00000502595.1:p.Gln753His
ENST00000230124.7:c.2388A>T	ENSP00000230124.3:p.Gln796His
NM_014845.5:c.2388A>T , LRG_241t1:c.2388A>T	NP_055660.1:p.Gln796His
XM_011536281.1:c.2325A>T	XP_011534583.1:p.Gln775His
XM_011536281.3:c.2325A>T	XP_011534583.1:p.Gln775His
XM_017011592.1:c.1839A>T	XP_016867081.1:p.Gln613His
XM_017011593.2:c.1458A>T	XP_016867082.1:p.Gln486His
NM_014845.6:c.2388A>T MANE Select	NP_055660.1:p.Gln796His