Canonical Allele Identifier: CA406900453

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310608C>G (hg19) ; chr19:g.49807351C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1057G>C MANE Select	ENSP00000313309.4:p.Glu353Gln
ENST00000313777.8:c.1057G>C	ENSP00000313309.4:p.Glu353Gln
ENST00000377092.8:c.*797G>C	ENSP00000366296.5:n.*797G>C
ENST00000525130.5:c.*711G>C	ENSP00000433492.1:n.*711G>C
ENST00000525370.5:c.*714G>C	ENSP00000431420.1:n.*714G>C
ENST00000528094.5:c.949G>C	ENSP00000435177.1:p.Glu317Gln
ENST00000529634.2:c.213G>C
ENST00000533418.5:c.907G>C	ENSP00000431731.1:p.Glu303Gln
NM_001171937.1:c.949G>C	NP_001165408.1:p.Glu317Gln
NM_025129.4:c.1057G>C	NP_079405.2:p.Glu353Gln
NR_033269.1:n.1176G>C
XM_006723399.2:c.*43G>C	XP_006723462.1:n.*43G>C
XM_011527339.1:c.1060G>C	XP_011525641.1:p.Glu354Gln
XM_011527340.1:c.910G>C	XP_011525642.1:p.Glu304Gln
XM_011527341.1:c.910G>C	XP_011525643.1:p.Glu304Gln
XM_011527342.1:c.889G>C	XP_011525644.1:p.Glu297Gln
XM_011527343.1:c.*43G>C	XP_011525645.1:n.*43G>C
XM_011527344.1:c.862G>C	XP_011525646.1:p.Glu288Gln
XM_011527345.1:c.760G>C	XP_011525647.1:p.Glu254Gln
XM_011527346.1:c.760G>C	XP_011525648.1:p.Glu254Gln
XM_011527347.1:c.760G>C	XP_011525649.1:p.Glu254Gln
XR_935862.1:n.1425G>C
NM_001352262.1:c.1060G>C	NP_001339191.1:p.Glu354Gln
NM_001363663.1:c.907G>C	NP_001350592.1:p.Glu303Gln
XM_006723399.3:c.*43G>C	XP_006723462.1:n.*43G>C
XM_011527341.2:c.910G>C	XP_011525643.1:p.Glu304Gln
XM_011527342.2:c.889G>C	XP_011525644.1:p.Glu297Gln
XM_017027321.1:c.757G>C	XP_016882810.1:p.Glu253Gln
XM_017027322.2:c.*43G>C	XP_016882811.1:n.*43G>C
XM_024451729.1:c.889G>C	XP_024307497.1:p.Glu297Gln
XM_024451730.1:c.886G>C	XP_024307498.1:p.Glu296Gln
XR_001753764.1:n.1832G>C
XR_001753765.1:n.1132G>C
XR_002958363.1:n.2083G>C
XR_002958364.1:n.1829G>C
XR_002958365.1:n.1722G>C
NM_001171937.2:c.949G>C	NP_001165408.1:p.Glu317Gln
NM_001352262.2:c.1060G>C	NP_001339191.1:p.Glu354Gln
NM_025129.5:c.1057G>C MANE Select	NP_079405.2:p.Glu353Gln
NR_033269.2:n.1158G>C