Canonical Allele Identifier: CA451754596

Gene: FIG4

Linked Data

• MyVariant Identifiers: chr6:g.110113865A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792662A>C , CM000668.2:g.109792662A>C	GRCh38
NC_000006.11:g.110113865A>C , CM000668.1:g.110113865A>C	GRCh37
NC_000006.10:g.110220558A>C	NCBI36
NG_007977.1:g.106442A>C , LRG_241:g.106442A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.2457A>C MANE Select	ENSP00000230124.4:p.Ser819=
ENST00000415980.2:c.963A>C	ENSP00000405660.2:p.Ser321=
ENST00000419951.2:n.805A>C
ENST00000674532.1:n.5653A>C
ENST00000674557.1:c.*1750A>C	ENSP00000501608.1:n.*1750A>C
ENST00000674569.1:c.*1576A>C	ENSP00000502769.1:n.*1576A>C
ENST00000674571.1:c.*1576A>C	ENSP00000501633.1:n.*1576A>C
ENST00000674575.1:c.*1576A>C	ENSP00000502276.1:n.*1576A>C
ENST00000674641.1:c.2112A>C	ENSP00000501609.1:p.Ser704=
ENST00000674649.1:c.*2150A>C	ENSP00000501669.1:n.*2150A>C
ENST00000674657.1:c.*1889A>C	ENSP00000502314.1:n.*1889A>C
ENST00000674744.1:c.2451A>C	ENSP00000501661.1:p.Ser817=
ENST00000674778.1:c.*1675A>C	ENSP00000502742.1:n.*1675A>C
ENST00000674783.1:c.*1372A>C	ENSP00000502755.1:n.*1372A>C
ENST00000674884.1:c.2475A>C	ENSP00000502668.1:p.Ser825=
ENST00000674930.1:c.*1582A>C	ENSP00000502657.1:n.*1582A>C
ENST00000674933.1:c.2226A>C	ENSP00000502376.1:p.Ser742=
ENST00000674956.1:c.*1671A>C	ENSP00000501904.1:n.*1671A>C
ENST00000675004.1:c.*2409A>C	ENSP00000501868.1:n.*2409A>C
ENST00000675009.1:c.*1841A>C	ENSP00000502098.1:n.*1841A>C
ENST00000675096.1:c.2250A>C	ENSP00000502116.1:p.Ser750=
ENST00000675122.1:c.*564A>C	ENSP00000501810.1:n.*564A>C
ENST00000675153.1:c.*1174A>C	ENSP00000501682.1:n.*1174A>C
ENST00000675254.1:n.3916A>C
ENST00000675272.1:n.6755A>C
ENST00000675284.1:c.2457A>C	ENSP00000502758.1:p.Ser819=
ENST00000675301.1:n.1114A>C
ENST00000675311.1:c.*1659A>C	ENSP00000501961.1:n.*1659A>C
ENST00000675426.1:c.*1525A>C	ENSP00000501819.1:n.*1525A>C
ENST00000675523.1:c.2226A>C	ENSP00000502384.1:p.Ser742=
ENST00000675552.1:c.*4720A>C	ENSP00000502197.1:n.*4720A>C
ENST00000675726.1:c.2457A>C	ENSP00000502452.1:p.Ser819=
ENST00000675772.1:c.2457A>C	ENSP00000501678.1:p.Ser819=
ENST00000675831.1:c.2064A>C	ENSP00000502382.1:p.Ser688=
ENST00000675849.1:n.2079A>C
ENST00000675879.1:c.1302A>C
ENST00000675954.1:n.3790A>C
ENST00000675991.1:c.*4284A>C	ENSP00000502162.1:n.*4284A>C
ENST00000675994.1:c.*1596A>C	ENSP00000502419.1:n.*1596A>C
ENST00000676021.1:c.*1035A>C	ENSP00000502746.1:n.*1035A>C
ENST00000676037.1:c.*384A>C	ENSP00000502181.1:n.*384A>C
ENST00000676136.1:n.5104A>C
ENST00000676246.1:n.347A>C
ENST00000676442.1:c.2328A>C	ENSP00000502595.1:p.Ser776=
ENST00000230124.7:c.2457A>C	ENSP00000230124.3:p.Ser819=
NM_014845.5:c.2457A>C , LRG_241t1:c.2457A>C	NP_055660.1:p.Ser819=
XM_011536281.1:c.2394A>C	XP_011534583.1:p.Ser798=
XM_011536281.3:c.2394A>C	XP_011534583.1:p.Ser798=
XM_017011592.1:c.1908A>C	XP_016867081.1:p.Ser636=
XM_017011593.2:c.1527A>C	XP_016867082.1:p.Ser509=
NM_014845.6:c.2457A>C MANE Select	NP_055660.1:p.Ser819=