Canonical Allele Identifier: CA406900497

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310617C>G (hg19) ; chr19:g.49807360C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807360C>G , CM000681.2:g.49807360C>G	GRCh38
NC_000019.9:g.50310617C>G , CM000681.1:g.50310617C>G	GRCh37
NC_000019.8:g.55002429C>G	NCBI36
NG_032843.1:g.10951G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1048G>C MANE Select	ENSP00000313309.4:p.Glu350Gln
ENST00000313777.8:c.1048G>C	ENSP00000313309.4:p.Glu350Gln
ENST00000377092.8:c.*788G>C	ENSP00000366296.5:n.*788G>C
ENST00000525130.5:c.*702G>C	ENSP00000433492.1:n.*702G>C
ENST00000525370.5:c.*705G>C	ENSP00000431420.1:n.*705G>C
ENST00000528094.5:c.940G>C	ENSP00000435177.1:p.Glu314Gln
ENST00000529634.2:c.204G>C
ENST00000533418.5:c.898G>C	ENSP00000431731.1:p.Glu300Gln
NM_001171937.1:c.940G>C	NP_001165408.1:p.Glu314Gln
NM_025129.4:c.1048G>C	NP_079405.2:p.Glu350Gln
NR_033269.1:n.1167G>C
XM_006723399.2:c.*34G>C	XP_006723462.1:n.*34G>C
XM_011527339.1:c.1051G>C	XP_011525641.1:p.Glu351Gln
XM_011527340.1:c.901G>C	XP_011525642.1:p.Glu301Gln
XM_011527341.1:c.901G>C	XP_011525643.1:p.Glu301Gln
XM_011527342.1:c.880G>C	XP_011525644.1:p.Glu294Gln
XM_011527343.1:c.*34G>C	XP_011525645.1:n.*34G>C
XM_011527344.1:c.853G>C	XP_011525646.1:p.Glu285Gln
XM_011527345.1:c.751G>C	XP_011525647.1:p.Glu251Gln
XM_011527346.1:c.751G>C	XP_011525648.1:p.Glu251Gln
XM_011527347.1:c.751G>C	XP_011525649.1:p.Glu251Gln
XR_935862.1:n.1416G>C
NM_001352262.1:c.1051G>C	NP_001339191.1:p.Glu351Gln
NM_001363663.1:c.898G>C	NP_001350592.1:p.Glu300Gln
XM_006723399.3:c.*34G>C	XP_006723462.1:n.*34G>C
XM_011527341.2:c.901G>C	XP_011525643.1:p.Glu301Gln
XM_011527342.2:c.880G>C	XP_011525644.1:p.Glu294Gln
XM_017027321.1:c.748G>C	XP_016882810.1:p.Glu250Gln
XM_017027322.2:c.*34G>C	XP_016882811.1:n.*34G>C
XM_024451729.1:c.880G>C	XP_024307497.1:p.Glu294Gln
XM_024451730.1:c.877G>C	XP_024307498.1:p.Glu293Gln
XR_001753764.1:n.1823G>C
XR_001753765.1:n.1123G>C
XR_002958363.1:n.2074G>C
XR_002958364.1:n.1820G>C
XR_002958365.1:n.1713G>C
NM_001171937.2:c.940G>C	NP_001165408.1:p.Glu314Gln
NM_001352262.2:c.1051G>C	NP_001339191.1:p.Glu351Gln
NM_025129.5:c.1048G>C MANE Select	NP_079405.2:p.Glu350Gln
NR_033269.2:n.1149G>C