Canonical Allele Identifier: CA365217933

Gene: FIG4

Linked Data

• MyVariant Identifiers: chr6:g.110113860T>A (hg19) ; chr6:g.109792657T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792657T>A , CM000668.2:g.109792657T>A	GRCh38
NC_000006.11:g.110113860T>A , CM000668.1:g.110113860T>A	GRCh37
NC_000006.10:g.110220553T>A	NCBI36
NG_007977.1:g.106437T>A , LRG_241:g.106437T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2452T>A MANE Select	ENSP00000230124.4:p.Tyr818Asn
ENST00000415980.2:c.958T>A	ENSP00000405660.2:p.Tyr320Asn
ENST00000419951.2:n.800T>A
ENST00000674532.1:n.5648T>A
ENST00000674557.1:c.*1745T>A	ENSP00000501608.1:n.*1745T>A
ENST00000674569.1:c.*1571T>A	ENSP00000502769.1:n.*1571T>A
ENST00000674571.1:c.*1571T>A	ENSP00000501633.1:n.*1571T>A
ENST00000674575.1:c.*1571T>A	ENSP00000502276.1:n.*1571T>A
ENST00000674641.1:c.2107T>A	ENSP00000501609.1:p.Tyr703Asn
ENST00000674649.1:c.*2145T>A	ENSP00000501669.1:n.*2145T>A
ENST00000674657.1:c.*1884T>A	ENSP00000502314.1:n.*1884T>A
ENST00000674744.1:c.2446T>A	ENSP00000501661.1:p.Tyr816Asn
ENST00000674778.1:c.*1670T>A	ENSP00000502742.1:n.*1670T>A
ENST00000674783.1:c.*1367T>A	ENSP00000502755.1:n.*1367T>A
ENST00000674884.1:c.2470T>A	ENSP00000502668.1:p.Tyr824Asn
ENST00000674930.1:c.*1577T>A	ENSP00000502657.1:n.*1577T>A
ENST00000674933.1:c.2221T>A	ENSP00000502376.1:p.Tyr741Asn
ENST00000674956.1:c.*1666T>A	ENSP00000501904.1:n.*1666T>A
ENST00000675004.1:c.*2404T>A	ENSP00000501868.1:n.*2404T>A
ENST00000675009.1:c.*1836T>A	ENSP00000502098.1:n.*1836T>A
ENST00000675096.1:c.2245T>A	ENSP00000502116.1:p.Tyr749Asn
ENST00000675122.1:c.*559T>A	ENSP00000501810.1:n.*559T>A
ENST00000675153.1:c.*1169T>A	ENSP00000501682.1:n.*1169T>A
ENST00000675254.1:n.3911T>A
ENST00000675272.1:n.6750T>A
ENST00000675284.1:c.2452T>A	ENSP00000502758.1:p.Tyr818Asn
ENST00000675301.1:n.1109T>A
ENST00000675311.1:c.*1654T>A	ENSP00000501961.1:n.*1654T>A
ENST00000675426.1:c.*1520T>A	ENSP00000501819.1:n.*1520T>A
ENST00000675523.1:c.2221T>A	ENSP00000502384.1:p.Tyr741Asn
ENST00000675552.1:c.*4715T>A	ENSP00000502197.1:n.*4715T>A
ENST00000675726.1:c.2452T>A	ENSP00000502452.1:p.Tyr818Asn
ENST00000675772.1:c.2452T>A	ENSP00000501678.1:p.Tyr818Asn
ENST00000675831.1:c.2059T>A	ENSP00000502382.1:p.Tyr687Asn
ENST00000675849.1:n.2074T>A
ENST00000675879.1:c.1297T>A
ENST00000675954.1:n.3785T>A
ENST00000675991.1:c.*4279T>A	ENSP00000502162.1:n.*4279T>A
ENST00000675994.1:c.*1591T>A	ENSP00000502419.1:n.*1591T>A
ENST00000676021.1:c.*1030T>A	ENSP00000502746.1:n.*1030T>A
ENST00000676037.1:c.*379T>A	ENSP00000502181.1:n.*379T>A
ENST00000676136.1:n.5099T>A
ENST00000676246.1:n.342T>A
ENST00000676442.1:c.2323T>A	ENSP00000502595.1:p.Tyr775Asn
ENST00000230124.7:c.2452T>A	ENSP00000230124.3:p.Tyr818Asn
NM_014845.5:c.2452T>A , LRG_241t1:c.2452T>A	NP_055660.1:p.Tyr818Asn
XM_011536281.1:c.2389T>A	XP_011534583.1:p.Tyr797Asn
XM_011536281.3:c.2389T>A	XP_011534583.1:p.Tyr797Asn
XM_017011592.1:c.1903T>A	XP_016867081.1:p.Tyr635Asn
XM_017011593.2:c.1522T>A	XP_016867082.1:p.Tyr508Asn
NM_014845.6:c.2452T>A MANE Select	NP_055660.1:p.Tyr818Asn