Canonical Allele Identifier: CA406900093

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310515G>C (hg19) ; chr19:g.49807258G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807258G>C , CM000681.2:g.49807258G>C	GRCh38
NC_000019.9:g.50310515G>C , CM000681.1:g.50310515G>C	GRCh37
NC_000019.8:g.55002327G>C	NCBI36
NG_032843.1:g.11053C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1150C>G MANE Select	ENSP00000313309.4:p.Gln384Glu
ENST00000313777.8:c.1150C>G	ENSP00000313309.4:p.Gln384Glu
ENST00000377092.8:c.*890C>G	ENSP00000366296.5:n.*890C>G
ENST00000525130.5:c.*804C>G	ENSP00000433492.1:n.*804C>G
ENST00000525370.5:c.*807C>G	ENSP00000431420.1:n.*807C>G
ENST00000528094.5:c.1042C>G	ENSP00000435177.1:p.Gln348Glu
ENST00000529634.2:c.306C>G
ENST00000533418.5:c.1000C>G	ENSP00000431731.1:p.Gln334Glu
NM_001171937.1:c.1042C>G	NP_001165408.1:p.Gln348Glu
NM_025129.4:c.1150C>G	NP_079405.2:p.Gln384Glu
NR_033269.1:n.1269C>G
XM_006723399.2:c.*136C>G	XP_006723462.1:n.*136C>G
XM_011527339.1:c.1153C>G	XP_011525641.1:p.Gln385Glu
XM_011527340.1:c.1003C>G	XP_011525642.1:p.Gln335Glu
XM_011527341.1:c.1003C>G	XP_011525643.1:p.Gln335Glu
XM_011527342.1:c.982C>G	XP_011525644.1:p.Gln328Glu
XM_011527343.1:c.*136C>G	XP_011525645.1:n.*136C>G
XM_011527344.1:c.955C>G	XP_011525646.1:p.Gln319Glu
XM_011527345.1:c.853C>G	XP_011525647.1:p.Gln285Glu
XM_011527346.1:c.853C>G	XP_011525648.1:p.Gln285Glu
XM_011527347.1:c.853C>G	XP_011525649.1:p.Gln285Glu
NM_001352262.1:c.1153C>G	NP_001339191.1:p.Gln385Glu
NM_001363663.1:c.1000C>G	NP_001350592.1:p.Gln334Glu
XM_006723399.3:c.*136C>G	XP_006723462.1:n.*136C>G
XM_011527341.2:c.1003C>G	XP_011525643.1:p.Gln335Glu
XM_011527342.2:c.982C>G	XP_011525644.1:p.Gln328Glu
XM_017027321.1:c.850C>G	XP_016882810.1:p.Gln284Glu
XM_017027322.2:c.*136C>G	XP_016882811.1:n.*136C>G
XM_024451729.1:c.982C>G	XP_024307497.1:p.Gln328Glu
XM_024451730.1:c.979C>G	XP_024307498.1:p.Gln327Glu
XR_001753764.1:n.1925C>G
XR_001753765.1:n.1225C>G
XR_002958363.1:n.2176C>G
XR_002958364.1:n.1922C>G
XR_002958365.1:n.1815C>G
NM_001171937.2:c.1042C>G	NP_001165408.1:p.Gln348Glu
NM_001352262.2:c.1153C>G	NP_001339191.1:p.Gln385Glu
NM_025129.5:c.1150C>G MANE Select	NP_079405.2:p.Gln384Glu
NR_033269.2:n.1251C>G