Canonical Allele Identifier: CA365217901

Gene: FIG4

Linked Data

• MyVariant Identifiers: chr6:g.110113855C>T (hg19) ; chr6:g.109792652C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792652C>T , CM000668.2:g.109792652C>T	GRCh38
NC_000006.11:g.110113855C>T , CM000668.1:g.110113855C>T	GRCh37
NC_000006.10:g.110220548C>T	NCBI36
NG_007977.1:g.106432C>T , LRG_241:g.106432C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2447C>T MANE Select	ENSP00000230124.4:p.Ser816Phe
ENST00000415980.2:c.953C>T	ENSP00000405660.2:p.Ser318Phe
ENST00000419951.2:n.795C>T
ENST00000674532.1:n.5643C>T
ENST00000674557.1:c.*1740C>T	ENSP00000501608.1:n.*1740C>T
ENST00000674569.1:c.*1566C>T	ENSP00000502769.1:n.*1566C>T
ENST00000674571.1:c.*1566C>T	ENSP00000501633.1:n.*1566C>T
ENST00000674575.1:c.*1566C>T	ENSP00000502276.1:n.*1566C>T
ENST00000674641.1:c.2102C>T	ENSP00000501609.1:p.Ser701Phe
ENST00000674649.1:c.*2140C>T	ENSP00000501669.1:n.*2140C>T
ENST00000674657.1:c.*1879C>T	ENSP00000502314.1:n.*1879C>T
ENST00000674744.1:c.2441C>T	ENSP00000501661.1:p.Ser814Phe
ENST00000674778.1:c.*1665C>T	ENSP00000502742.1:n.*1665C>T
ENST00000674783.1:c.*1362C>T	ENSP00000502755.1:n.*1362C>T
ENST00000674884.1:c.2465C>T	ENSP00000502668.1:p.Ser822Phe
ENST00000674930.1:c.*1572C>T	ENSP00000502657.1:n.*1572C>T
ENST00000674933.1:c.2216C>T	ENSP00000502376.1:p.Ser739Phe
ENST00000674956.1:c.*1661C>T	ENSP00000501904.1:n.*1661C>T
ENST00000675004.1:c.*2399C>T	ENSP00000501868.1:n.*2399C>T
ENST00000675009.1:c.*1831C>T	ENSP00000502098.1:n.*1831C>T
ENST00000675096.1:c.2240C>T	ENSP00000502116.1:p.Ser747Phe
ENST00000675122.1:c.*554C>T	ENSP00000501810.1:n.*554C>T
ENST00000675153.1:c.*1164C>T	ENSP00000501682.1:n.*1164C>T
ENST00000675254.1:n.3906C>T
ENST00000675272.1:n.6745C>T
ENST00000675284.1:c.2447C>T	ENSP00000502758.1:p.Ser816Phe
ENST00000675301.1:n.1104C>T
ENST00000675311.1:c.*1649C>T	ENSP00000501961.1:n.*1649C>T
ENST00000675426.1:c.*1515C>T	ENSP00000501819.1:n.*1515C>T
ENST00000675523.1:c.2216C>T	ENSP00000502384.1:p.Ser739Phe
ENST00000675552.1:c.*4710C>T	ENSP00000502197.1:n.*4710C>T
ENST00000675726.1:c.2447C>T	ENSP00000502452.1:p.Ser816Phe
ENST00000675772.1:c.2447C>T	ENSP00000501678.1:p.Ser816Phe
ENST00000675831.1:c.2054C>T	ENSP00000502382.1:p.Ser685Phe
ENST00000675849.1:n.2069C>T
ENST00000675879.1:c.1292C>T
ENST00000675954.1:n.3780C>T
ENST00000675991.1:c.*4274C>T	ENSP00000502162.1:n.*4274C>T
ENST00000675994.1:c.*1586C>T	ENSP00000502419.1:n.*1586C>T
ENST00000676021.1:c.*1025C>T	ENSP00000502746.1:n.*1025C>T
ENST00000676037.1:c.*374C>T	ENSP00000502181.1:n.*374C>T
ENST00000676136.1:n.5094C>T
ENST00000676246.1:n.337C>T
ENST00000676442.1:c.2318C>T	ENSP00000502595.1:p.Ser773Phe
ENST00000230124.7:c.2447C>T	ENSP00000230124.3:p.Ser816Phe
NM_014845.5:c.2447C>T , LRG_241t1:c.2447C>T	NP_055660.1:p.Ser816Phe
XM_011536281.1:c.2384C>T	XP_011534583.1:p.Ser795Phe
XM_011536281.3:c.2384C>T	XP_011534583.1:p.Ser795Phe
XM_017011592.1:c.1898C>T	XP_016867081.1:p.Ser633Phe
XM_017011593.2:c.1517C>T	XP_016867082.1:p.Ser506Phe
NM_014845.6:c.2447C>T MANE Select	NP_055660.1:p.Ser816Phe