Canonical Allele Identifier: CA145158732

Gene: FIG4

Linked Data

• ClinVar Variation Id: 501898
• ClinVar RCV Id: RCV000598045 ; RCV003767403
• dbSNP Id: rs866431185
• gnomAD v4: 6-109765164-A-G
• MyVariant Identifiers: chr6:g.110086367A>G (hg19) ; chr6:g.109765164A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109765164A>G , CM000668.2:g.109765164A>G	GRCh38
NC_000006.11:g.110086367A>G , CM000668.1:g.110086367A>G	GRCh37
NC_000006.10:g.110193060A>G	NCBI36
NG_007977.1:g.78944A>G , LRG_241:g.78944A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.1583+3A>G MANE Select	ENSP00000230124.4:n.1583+3A>G
ENST00000415980.2:c.89+3A>G	ENSP00000405660.2:n.89+3A>G
ENST00000674532.1:n.4779+3A>G
ENST00000674557.1:c.*1015+3A>G	ENSP00000501608.1:n.*1015+3A>G
ENST00000674569.1:c.*702+3A>G	ENSP00000502769.1:n.*702+3A>G
ENST00000674571.1:c.*702+3A>G	ENSP00000501633.1:n.*702+3A>G
ENST00000674575.1:c.*702+3A>G	ENSP00000502276.1:n.*702+3A>G
ENST00000674641.1:c.1238+3A>G	ENSP00000501609.1:n.1238+3A>G
ENST00000674644.1:c.653+3A>G	ENSP00000502201.1:n.653+3A>G
ENST00000674649.1:c.*1276+3A>G	ENSP00000501669.1:n.*1276+3A>G
ENST00000674657.1:c.*1015+3A>G	ENSP00000502314.1:n.*1015+3A>G
ENST00000674744.1:c.1577+3A>G	ENSP00000501661.1:n.1577+3A>G
ENST00000674778.1:c.*702+3A>G	ENSP00000502742.1:n.*702+3A>G
ENST00000674783.1:c.*498+3A>G	ENSP00000502755.1:n.*498+3A>G
ENST00000674884.1:c.1601+3A>G	ENSP00000502668.1:n.1601+3A>G
ENST00000674930.1:c.*708+3A>G	ENSP00000502657.1:n.*708+3A>G
ENST00000674933.1:c.1352+3A>G	ENSP00000502376.1:n.1352+3A>G
ENST00000674956.1:c.*797+3A>G	ENSP00000501904.1:n.*797+3A>G
ENST00000675004.1:c.*1535+3A>G	ENSP00000501868.1:n.*1535+3A>G
ENST00000675009.1:c.*967+3A>G	ENSP00000502098.1:n.*967+3A>G
ENST00000675096.1:c.1583+3A>G	ENSP00000502116.1:n.1583+3A>G
ENST00000675122.1:c.1583+3A>G	ENSP00000501810.1:n.1583+3A>G
ENST00000675153.1:c.*300+3A>G	ENSP00000501682.1:n.*300+3A>G
ENST00000675272.1:n.5881+3A>G
ENST00000675284.1:c.1583+3A>G	ENSP00000502758.1:n.1583+3A>G
ENST00000675311.1:c.*785+3A>G	ENSP00000501961.1:n.*785+3A>G
ENST00000675426.1:c.*651+3A>G	ENSP00000501819.1:n.*651+3A>G
ENST00000675523.1:c.1352+3A>G	ENSP00000502384.1:n.1352+3A>G
ENST00000675552.1:c.*702+3A>G	ENSP00000502197.1:n.*702+3A>G
ENST00000675681.1:c.1583+3A>G	ENSP00000502705.1:n.1583+3A>G
ENST00000675714.1:c.1583+3A>G	ENSP00000502561.1:n.1583+3A>G
ENST00000675726.1:c.1583+3A>G	ENSP00000502452.1:n.1583+3A>G
ENST00000675772.1:c.1583+3A>G	ENSP00000501678.1:n.1583+3A>G
ENST00000675831.1:c.1190+3A>G	ENSP00000502382.1:n.1190+3A>G
ENST00000675847.1:n.1707+3A>G
ENST00000675849.1:n.1205+3A>G
ENST00000675879.1:c.312+3A>G
ENST00000675887.1:c.*1186+3A>G	ENSP00000502123.1:n.*1186+3A>G
ENST00000675973.1:c.1454+3A>G	ENSP00000502407.1:n.1454+3A>G
ENST00000675991.1:c.*702+3A>G	ENSP00000502162.1:n.*702+3A>G
ENST00000675994.1:c.*702+3A>G	ENSP00000502419.1:n.*702+3A>G
ENST00000676021.1:c.*300+3A>G	ENSP00000502746.1:n.*300+3A>G
ENST00000676037.1:c.1583+3A>G	ENSP00000502181.1:n.1583+3A>G
ENST00000676136.1:n.1723+3A>G
ENST00000676442.1:c.1454+3A>G	ENSP00000502595.1:n.1454+3A>G
ENST00000230124.7:c.1583+3A>G	ENSP00000230124.3:n.1583+3A>G
NM_014845.5:c.1583+3A>G , LRG_241t1:c.1583+3A>G	NP_055660.1:n.1583+3A>G
XM_011536281.1:c.1520+3A>G	XP_011534583.1:n.1520+3A>G
XM_011536281.3:c.1520+3A>G	XP_011534583.1:n.1520+3A>G
XM_017011591.2:c.1583+3A>G	XP_016867080.1:n.1583+3A>G
XM_017011592.1:c.1034+3A>G	XP_016867081.1:n.1034+3A>G
XM_017011593.2:c.653+3A>G	XP_016867082.1:n.653+3A>G
NM_014845.6:c.1583+3A>G MANE Select	NP_055660.1:n.1583+3A>G