Canonical Allele Identifier: CA3956397

Gene: FIG4

Linked Data

• dbSNP Id: rs754497293
• ExAC: 6:110113854 T / G
• gnomAD v2: 6-110113854-T-G
• gnomAD v4: 6-109792651-T-G
• MyVariant Identifiers: chr6:g.110113854T>G (hg19) ; chr6:g.109792651T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792651T>G , CM000668.2:g.109792651T>G	GRCh38
NC_000006.11:g.110113854T>G , CM000668.1:g.110113854T>G	GRCh37
NC_000006.10:g.110220547T>G	NCBI36
NG_007977.1:g.106431T>G , LRG_241:g.106431T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2446T>G MANE Select	ENSP00000230124.4:p.Ser816Ala
ENST00000415980.2:c.952T>G	ENSP00000405660.2:p.Ser318Ala
ENST00000419951.2:n.794T>G
ENST00000674532.1:n.5642T>G
ENST00000674557.1:c.*1739T>G	ENSP00000501608.1:n.*1739T>G
ENST00000674569.1:c.*1565T>G	ENSP00000502769.1:n.*1565T>G
ENST00000674571.1:c.*1565T>G	ENSP00000501633.1:n.*1565T>G
ENST00000674575.1:c.*1565T>G	ENSP00000502276.1:n.*1565T>G
ENST00000674641.1:c.2101T>G	ENSP00000501609.1:p.Ser701Ala
ENST00000674649.1:c.*2139T>G	ENSP00000501669.1:n.*2139T>G
ENST00000674657.1:c.*1878T>G	ENSP00000502314.1:n.*1878T>G
ENST00000674744.1:c.2440T>G	ENSP00000501661.1:p.Ser814Ala
ENST00000674778.1:c.*1664T>G	ENSP00000502742.1:n.*1664T>G
ENST00000674783.1:c.*1361T>G	ENSP00000502755.1:n.*1361T>G
ENST00000674884.1:c.2464T>G	ENSP00000502668.1:p.Ser822Ala
ENST00000674930.1:c.*1571T>G	ENSP00000502657.1:n.*1571T>G
ENST00000674933.1:c.2215T>G	ENSP00000502376.1:p.Ser739Ala
ENST00000674956.1:c.*1660T>G	ENSP00000501904.1:n.*1660T>G
ENST00000675004.1:c.*2398T>G	ENSP00000501868.1:n.*2398T>G
ENST00000675009.1:c.*1830T>G	ENSP00000502098.1:n.*1830T>G
ENST00000675096.1:c.2239T>G	ENSP00000502116.1:p.Ser747Ala
ENST00000675122.1:c.*553T>G	ENSP00000501810.1:n.*553T>G
ENST00000675153.1:c.*1163T>G	ENSP00000501682.1:n.*1163T>G
ENST00000675254.1:n.3905T>G
ENST00000675272.1:n.6744T>G
ENST00000675284.1:c.2446T>G	ENSP00000502758.1:p.Ser816Ala
ENST00000675301.1:n.1103T>G
ENST00000675311.1:c.*1648T>G	ENSP00000501961.1:n.*1648T>G
ENST00000675426.1:c.*1514T>G	ENSP00000501819.1:n.*1514T>G
ENST00000675523.1:c.2215T>G	ENSP00000502384.1:p.Ser739Ala
ENST00000675552.1:c.*4709T>G	ENSP00000502197.1:n.*4709T>G
ENST00000675726.1:c.2446T>G	ENSP00000502452.1:p.Ser816Ala
ENST00000675772.1:c.2446T>G	ENSP00000501678.1:p.Ser816Ala
ENST00000675831.1:c.2053T>G	ENSP00000502382.1:p.Ser685Ala
ENST00000675849.1:n.2068T>G
ENST00000675879.1:c.1291T>G
ENST00000675954.1:n.3779T>G
ENST00000675991.1:c.*4273T>G	ENSP00000502162.1:n.*4273T>G
ENST00000675994.1:c.*1585T>G	ENSP00000502419.1:n.*1585T>G
ENST00000676021.1:c.*1024T>G	ENSP00000502746.1:n.*1024T>G
ENST00000676037.1:c.*373T>G	ENSP00000502181.1:n.*373T>G
ENST00000676136.1:n.5093T>G
ENST00000676246.1:n.336T>G
ENST00000676442.1:c.2317T>G	ENSP00000502595.1:p.Ser773Ala
ENST00000230124.7:c.2446T>G	ENSP00000230124.3:p.Ser816Ala
NM_014845.5:c.2446T>G , LRG_241t1:c.2446T>G	NP_055660.1:p.Ser816Ala
XM_011536281.1:c.2383T>G	XP_011534583.1:p.Ser795Ala
XM_011536281.3:c.2383T>G	XP_011534583.1:p.Ser795Ala
XM_017011592.1:c.1897T>G	XP_016867081.1:p.Ser633Ala
XM_017011593.2:c.1516T>G	XP_016867082.1:p.Ser506Ala
NM_014845.6:c.2446T>G MANE Select	NP_055660.1:p.Ser816Ala