Canonical Allele Identifier: CA508137640

Gene: FUZ

Linked Data

• dbSNP Id: rs1248334306
• gnomAD v2: 19-50310615-C-T
• gnomAD v4: 19-49807358-C-T
• MyVariant Identifiers: chr19:g.50310615C>T (hg19) ; chr19:g.49807358C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807358C>T , CM000681.2:g.49807358C>T	GRCh38
NC_000019.9:g.50310615C>T , CM000681.1:g.50310615C>T	GRCh37
NC_000019.8:g.55002427C>T	NCBI36
NG_032843.1:g.10953G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1050G>A MANE Select	ENSP00000313309.4:p.Glu350=
ENST00000313777.8:c.1050G>A	ENSP00000313309.4:p.Glu350=
ENST00000377092.8:c.*790G>A	ENSP00000366296.5:n.*790G>A
ENST00000525130.5:c.*704G>A	ENSP00000433492.1:n.*704G>A
ENST00000525370.5:c.*707G>A	ENSP00000431420.1:n.*707G>A
ENST00000528094.5:c.942G>A	ENSP00000435177.1:p.Glu314=
ENST00000529634.2:c.206G>A
ENST00000533418.5:c.900G>A	ENSP00000431731.1:p.Glu300=
NM_001171937.1:c.942G>A	NP_001165408.1:p.Glu314=
NM_025129.4:c.1050G>A	NP_079405.2:p.Glu350=
NR_033269.1:n.1169G>A
XM_006723399.2:c.*36G>A	XP_006723462.1:n.*36G>A
XM_011527339.1:c.1053G>A	XP_011525641.1:p.Glu351=
XM_011527340.1:c.903G>A	XP_011525642.1:p.Glu301=
XM_011527341.1:c.903G>A	XP_011525643.1:p.Glu301=
XM_011527342.1:c.882G>A	XP_011525644.1:p.Glu294=
XM_011527343.1:c.*36G>A	XP_011525645.1:n.*36G>A
XM_011527344.1:c.855G>A	XP_011525646.1:p.Glu285=
XM_011527345.1:c.753G>A	XP_011525647.1:p.Glu251=
XM_011527346.1:c.753G>A	XP_011525648.1:p.Glu251=
XM_011527347.1:c.753G>A	XP_011525649.1:p.Glu251=
XR_935862.1:n.1418G>A
NM_001352262.1:c.1053G>A	NP_001339191.1:p.Glu351=
NM_001363663.1:c.900G>A	NP_001350592.1:p.Glu300=
XM_006723399.3:c.*36G>A	XP_006723462.1:n.*36G>A
XM_011527341.2:c.903G>A	XP_011525643.1:p.Glu301=
XM_011527342.2:c.882G>A	XP_011525644.1:p.Glu294=
XM_017027321.1:c.750G>A	XP_016882810.1:p.Glu250=
XM_017027322.2:c.*36G>A	XP_016882811.1:n.*36G>A
XM_024451729.1:c.882G>A	XP_024307497.1:p.Glu294=
XM_024451730.1:c.879G>A	XP_024307498.1:p.Glu293=
XR_001753764.1:n.1825G>A
XR_001753765.1:n.1125G>A
XR_002958363.1:n.2076G>A
XR_002958364.1:n.1822G>A
XR_002958365.1:n.1715G>A
NM_001171937.2:c.942G>A	NP_001165408.1:p.Glu314=
NM_001352262.2:c.1053G>A	NP_001339191.1:p.Glu351=
NM_025129.5:c.1050G>A MANE Select	NP_079405.2:p.Glu350=
NR_033269.2:n.1151G>A