Canonical Allele Identifier: CA406900455

Gene: FUZ

Linked Data

• gnomAD v4: 19-49807351-C-T
• MyVariant Identifiers: chr19:g.50310608C>T (hg19) ; chr19:g.49807351C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807351C>T , CM000681.2:g.49807351C>T	GRCh38
NC_000019.9:g.50310608C>T , CM000681.1:g.50310608C>T	GRCh37
NC_000019.8:g.55002420C>T	NCBI36
NG_032843.1:g.10960G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1057G>A MANE Select	ENSP00000313309.4:p.Glu353Lys
ENST00000313777.8:c.1057G>A	ENSP00000313309.4:p.Glu353Lys
ENST00000377092.8:c.*797G>A	ENSP00000366296.5:n.*797G>A
ENST00000525130.5:c.*711G>A	ENSP00000433492.1:n.*711G>A
ENST00000525370.5:c.*714G>A	ENSP00000431420.1:n.*714G>A
ENST00000528094.5:c.949G>A	ENSP00000435177.1:p.Glu317Lys
ENST00000529634.2:c.213G>A
ENST00000533418.5:c.907G>A	ENSP00000431731.1:p.Glu303Lys
NM_001171937.1:c.949G>A	NP_001165408.1:p.Glu317Lys
NM_025129.4:c.1057G>A	NP_079405.2:p.Glu353Lys
NR_033269.1:n.1176G>A
XM_006723399.2:c.*43G>A	XP_006723462.1:n.*43G>A
XM_011527339.1:c.1060G>A	XP_011525641.1:p.Glu354Lys
XM_011527340.1:c.910G>A	XP_011525642.1:p.Glu304Lys
XM_011527341.1:c.910G>A	XP_011525643.1:p.Glu304Lys
XM_011527342.1:c.889G>A	XP_011525644.1:p.Glu297Lys
XM_011527343.1:c.*43G>A	XP_011525645.1:n.*43G>A
XM_011527344.1:c.862G>A	XP_011525646.1:p.Glu288Lys
XM_011527345.1:c.760G>A	XP_011525647.1:p.Glu254Lys
XM_011527346.1:c.760G>A	XP_011525648.1:p.Glu254Lys
XM_011527347.1:c.760G>A	XP_011525649.1:p.Glu254Lys
XR_935862.1:n.1425G>A
NM_001352262.1:c.1060G>A	NP_001339191.1:p.Glu354Lys
NM_001363663.1:c.907G>A	NP_001350592.1:p.Glu303Lys
XM_006723399.3:c.*43G>A	XP_006723462.1:n.*43G>A
XM_011527341.2:c.910G>A	XP_011525643.1:p.Glu304Lys
XM_011527342.2:c.889G>A	XP_011525644.1:p.Glu297Lys
XM_017027321.1:c.757G>A	XP_016882810.1:p.Glu253Lys
XM_017027322.2:c.*43G>A	XP_016882811.1:n.*43G>A
XM_024451729.1:c.889G>A	XP_024307497.1:p.Glu297Lys
XM_024451730.1:c.886G>A	XP_024307498.1:p.Glu296Lys
XR_001753764.1:n.1832G>A
XR_001753765.1:n.1132G>A
XR_002958363.1:n.2083G>A
XR_002958364.1:n.1829G>A
XR_002958365.1:n.1722G>A
NM_001171937.2:c.949G>A	NP_001165408.1:p.Glu317Lys
NM_001352262.2:c.1060G>A	NP_001339191.1:p.Glu354Lys
NM_025129.5:c.1057G>A MANE Select	NP_079405.2:p.Glu353Lys
NR_033269.2:n.1158G>A