Canonical Allele Identifier: CA406900068

Gene: FUZ

Linked Data

• gnomAD v4: 19-49807252-C-T
• MyVariant Identifiers: chr19:g.50310509C>T (hg19) ; chr19:g.49807252C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807252C>T , CM000681.2:g.49807252C>T	GRCh38
NC_000019.9:g.50310509C>T , CM000681.1:g.50310509C>T	GRCh37
NC_000019.8:g.55002321C>T	NCBI36
NG_032843.1:g.11059G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1156G>A MANE Select	ENSP00000313309.4:p.Gly386Arg
ENST00000313777.8:c.1156G>A	ENSP00000313309.4:p.Gly386Arg
ENST00000377092.8:c.*896G>A	ENSP00000366296.5:n.*896G>A
ENST00000525130.5:c.*810G>A	ENSP00000433492.1:n.*810G>A
ENST00000525370.5:c.*813G>A	ENSP00000431420.1:n.*813G>A
ENST00000528094.5:c.1048G>A	ENSP00000435177.1:p.Gly350Arg
ENST00000529634.2:c.312G>A
ENST00000533418.5:c.1006G>A	ENSP00000431731.1:p.Gly336Arg
NM_001171937.1:c.1048G>A	NP_001165408.1:p.Gly350Arg
NM_025129.4:c.1156G>A	NP_079405.2:p.Gly386Arg
NR_033269.1:n.1275G>A
XM_006723399.2:c.*142G>A	XP_006723462.1:n.*142G>A
XM_011527339.1:c.1159G>A	XP_011525641.1:p.Gly387Arg
XM_011527340.1:c.1009G>A	XP_011525642.1:p.Gly337Arg
XM_011527341.1:c.1009G>A	XP_011525643.1:p.Gly337Arg
XM_011527342.1:c.988G>A	XP_011525644.1:p.Gly330Arg
XM_011527343.1:c.*142G>A	XP_011525645.1:n.*142G>A
XM_011527344.1:c.961G>A	XP_011525646.1:p.Gly321Arg
XM_011527345.1:c.859G>A	XP_011525647.1:p.Gly287Arg
XM_011527346.1:c.859G>A	XP_011525648.1:p.Gly287Arg
XM_011527347.1:c.859G>A	XP_011525649.1:p.Gly287Arg
NM_001352262.1:c.1159G>A	NP_001339191.1:p.Gly387Arg
NM_001363663.1:c.1006G>A	NP_001350592.1:p.Gly336Arg
XM_006723399.3:c.*142G>A	XP_006723462.1:n.*142G>A
XM_011527341.2:c.1009G>A	XP_011525643.1:p.Gly337Arg
XM_011527342.2:c.988G>A	XP_011525644.1:p.Gly330Arg
XM_017027321.1:c.856G>A	XP_016882810.1:p.Gly286Arg
XM_017027322.2:c.*142G>A	XP_016882811.1:n.*142G>A
XM_024451729.1:c.988G>A	XP_024307497.1:p.Gly330Arg
XM_024451730.1:c.985G>A	XP_024307498.1:p.Gly329Arg
XR_001753764.1:n.1931G>A
XR_001753765.1:n.1231G>A
XR_002958363.1:n.2182G>A
XR_002958364.1:n.1928G>A
XR_002958365.1:n.1821G>A
NM_001171937.2:c.1048G>A	NP_001165408.1:p.Gly350Arg
NM_001352262.2:c.1159G>A	NP_001339191.1:p.Gly387Arg
NM_025129.5:c.1156G>A MANE Select	NP_079405.2:p.Gly386Arg
NR_033269.2:n.1257G>A