Canonical Allele Identifier: CA406900084

Gene: FUZ

Linked Data

• gnomAD v4: 19-49807257-T-A
• MyVariant Identifiers: chr19:g.50310514T>A (hg19) ; chr19:g.49807257T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807257T>A , CM000681.2:g.49807257T>A	GRCh38
NC_000019.9:g.50310514T>A , CM000681.1:g.50310514T>A	GRCh37
NC_000019.8:g.55002326T>A	NCBI36
NG_032843.1:g.11054A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1151A>T MANE Select	ENSP00000313309.4:p.Gln384Leu
ENST00000313777.8:c.1151A>T	ENSP00000313309.4:p.Gln384Leu
ENST00000377092.8:c.*891A>T	ENSP00000366296.5:n.*891A>T
ENST00000525130.5:c.*805A>T	ENSP00000433492.1:n.*805A>T
ENST00000525370.5:c.*808A>T	ENSP00000431420.1:n.*808A>T
ENST00000528094.5:c.1043A>T	ENSP00000435177.1:p.Gln348Leu
ENST00000529634.2:c.307A>T
ENST00000533418.5:c.1001A>T	ENSP00000431731.1:p.Gln334Leu
NM_001171937.1:c.1043A>T	NP_001165408.1:p.Gln348Leu
NM_025129.4:c.1151A>T	NP_079405.2:p.Gln384Leu
NR_033269.1:n.1270A>T
XM_006723399.2:c.*137A>T	XP_006723462.1:n.*137A>T
XM_011527339.1:c.1154A>T	XP_011525641.1:p.Gln385Leu
XM_011527340.1:c.1004A>T	XP_011525642.1:p.Gln335Leu
XM_011527341.1:c.1004A>T	XP_011525643.1:p.Gln335Leu
XM_011527342.1:c.983A>T	XP_011525644.1:p.Gln328Leu
XM_011527343.1:c.*137A>T	XP_011525645.1:n.*137A>T
XM_011527344.1:c.956A>T	XP_011525646.1:p.Gln319Leu
XM_011527345.1:c.854A>T	XP_011525647.1:p.Gln285Leu
XM_011527346.1:c.854A>T	XP_011525648.1:p.Gln285Leu
XM_011527347.1:c.854A>T	XP_011525649.1:p.Gln285Leu
NM_001352262.1:c.1154A>T	NP_001339191.1:p.Gln385Leu
NM_001363663.1:c.1001A>T	NP_001350592.1:p.Gln334Leu
XM_006723399.3:c.*137A>T	XP_006723462.1:n.*137A>T
XM_011527341.2:c.1004A>T	XP_011525643.1:p.Gln335Leu
XM_011527342.2:c.983A>T	XP_011525644.1:p.Gln328Leu
XM_017027321.1:c.851A>T	XP_016882810.1:p.Gln284Leu
XM_017027322.2:c.*137A>T	XP_016882811.1:n.*137A>T
XM_024451729.1:c.983A>T	XP_024307497.1:p.Gln328Leu
XM_024451730.1:c.980A>T	XP_024307498.1:p.Gln327Leu
XR_001753764.1:n.1926A>T
XR_001753765.1:n.1226A>T
XR_002958363.1:n.2177A>T
XR_002958364.1:n.1923A>T
XR_002958365.1:n.1816A>T
NM_001171937.2:c.1043A>T	NP_001165408.1:p.Gln348Leu
NM_001352262.2:c.1154A>T	NP_001339191.1:p.Gln385Leu
NM_025129.5:c.1151A>T MANE Select	NP_079405.2:p.Gln384Leu
NR_033269.2:n.1252A>T