Canonical Allele Identifier: CA2679972422

Gene: FIG4

Linked Data

• gnomAD v4: 6-109792667-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792667G>T , CM000668.2:g.109792667G>T	GRCh38
NC_000006.11:g.110113870G>T , CM000668.1:g.110113870G>T	GRCh37
NC_000006.10:g.110220563G>T	NCBI36
NG_007977.1:g.106447G>T , LRG_241:g.106447G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2459+3G>T MANE Select	ENSP00000230124.4:n.2459+3G>T
ENST00000415980.2:c.965+3G>T	ENSP00000405660.2:n.965+3G>T
ENST00000419951.2:n.807+3G>T
ENST00000674532.1:n.5655+3G>T
ENST00000674557.1:c.*1752+3G>T	ENSP00000501608.1:n.*1752+3G>T
ENST00000674569.1:c.*1578+3G>T	ENSP00000502769.1:n.*1578+3G>T
ENST00000674571.1:c.*1578+3G>T	ENSP00000501633.1:n.*1578+3G>T
ENST00000674575.1:c.*1578+3G>T	ENSP00000502276.1:n.*1578+3G>T
ENST00000674641.1:c.2114+3G>T	ENSP00000501609.1:n.2114+3G>T
ENST00000674649.1:c.*2152+3G>T	ENSP00000501669.1:n.*2152+3G>T
ENST00000674657.1:c.*1891+3G>T	ENSP00000502314.1:n.*1891+3G>T
ENST00000674744.1:c.2453+3G>T	ENSP00000501661.1:n.2453+3G>T
ENST00000674778.1:c.*1677+3G>T	ENSP00000502742.1:n.*1677+3G>T
ENST00000674783.1:c.*1374+3G>T	ENSP00000502755.1:n.*1374+3G>T
ENST00000674884.1:c.2477+3G>T	ENSP00000502668.1:n.2477+3G>T
ENST00000674930.1:c.*1584+3G>T	ENSP00000502657.1:n.*1584+3G>T
ENST00000674933.1:c.2228+3G>T	ENSP00000502376.1:n.2228+3G>T
ENST00000674956.1:c.*1673+3G>T	ENSP00000501904.1:n.*1673+3G>T
ENST00000675004.1:c.*2411+3G>T	ENSP00000501868.1:n.*2411+3G>T
ENST00000675009.1:c.*1843+3G>T	ENSP00000502098.1:n.*1843+3G>T
ENST00000675096.1:c.2252+3G>T	ENSP00000502116.1:n.2252+3G>T
ENST00000675122.1:c.*566+3G>T	ENSP00000501810.1:n.*566+3G>T
ENST00000675153.1:c.*1176+3G>T	ENSP00000501682.1:n.*1176+3G>T
ENST00000675254.1:n.3918+3G>T
ENST00000675272.1:n.6757+3G>T
ENST00000675284.1:c.2459+3G>T	ENSP00000502758.1:n.2459+3G>T
ENST00000675301.1:n.1116+3G>T
ENST00000675311.1:c.*1661+3G>T	ENSP00000501961.1:n.*1661+3G>T
ENST00000675426.1:c.*1527+3G>T	ENSP00000501819.1:n.*1527+3G>T
ENST00000675523.1:c.2228+3G>T	ENSP00000502384.1:n.2228+3G>T
ENST00000675552.1:c.*4722+3G>T	ENSP00000502197.1:n.*4722+3G>T
ENST00000675726.1:c.2459+3G>T	ENSP00000502452.1:n.2459+3G>T
ENST00000675772.1:c.2459+3G>T	ENSP00000501678.1:n.2459+3G>T
ENST00000675831.1:c.2066+3G>T	ENSP00000502382.1:n.2066+3G>T
ENST00000675849.1:n.2081+3G>T
ENST00000675879.1:c.1304+3G>T
ENST00000675954.1:n.3792+3G>T
ENST00000675991.1:c.*4286+3G>T	ENSP00000502162.1:n.*4286+3G>T
ENST00000675994.1:c.*1598+3G>T	ENSP00000502419.1:n.*1598+3G>T
ENST00000676021.1:c.*1037+3G>T	ENSP00000502746.1:n.*1037+3G>T
ENST00000676037.1:c.*386+3G>T	ENSP00000502181.1:n.*386+3G>T
ENST00000676136.1:n.5106+3G>T
ENST00000676246.1:n.349+3G>T
ENST00000676442.1:c.2330+3G>T	ENSP00000502595.1:n.2330+3G>T
ENST00000230124.7:c.2459+3G>T	ENSP00000230124.3:n.2459+3G>T
NM_014845.5:c.2459+3G>T , LRG_241t1:c.2459+3G>T	NP_055660.1:n.2459+3G>T
XM_011536281.1:c.2396+3G>T	XP_011534583.1:n.2396+3G>T
XM_011536281.3:c.2396+3G>T	XP_011534583.1:n.2396+3G>T
XM_017011592.1:c.1910+3G>T	XP_016867081.1:n.1910+3G>T
XM_017011593.2:c.1529+3G>T	XP_016867082.1:n.1529+3G>T
NM_014845.6:c.2459+3G>T MANE Select	NP_055660.1:n.2459+3G>T