Canonical Allele Identifier: CA9584181

Gene: FUZ

Linked Data

• dbSNP Id: rs776024806
• ExAC: 19:50310409 C / T
• gnomAD v2: 19-50310409-C-T
• gnomAD v3: 19-49807152-C-T
• gnomAD v4: 19-49807152-C-T
• MyVariant Identifiers: chr19:g.50310409C>T (hg19) ; chr19:g.49807152C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807152C>T , CM000681.2:g.49807152C>T	GRCh38
NC_000019.9:g.50310409C>T , CM000681.1:g.50310409C>T	GRCh37
NC_000019.8:g.55002221C>T	NCBI36
NG_032843.1:g.11159G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1256G>A MANE Select	ENSP00000313309.4:p.Ter419=
ENST00000313777.8:c.1256G>A	ENSP00000313309.4:p.Ter419=
ENST00000377092.8:c.*996G>A	ENSP00000366296.5:n.*996G>A
ENST00000525130.5:c.*910G>A	ENSP00000433492.1:n.*910G>A
ENST00000525370.5:c.*913G>A	ENSP00000431420.1:n.*913G>A
ENST00000528094.5:c.1148G>A	ENSP00000435177.1:p.Ter383=
ENST00000529634.2:c.412G>A
ENST00000533418.5:c.1106G>A	ENSP00000431731.1:p.Ter369=
NM_001171937.1:c.1148G>A	NP_001165408.1:p.Ter383=
NM_025129.4:c.1256G>A	NP_079405.2:p.Ter419=
NR_033269.1:n.1375G>A
XM_006723399.2:c.*242G>A	XP_006723462.1:n.*242G>A
XM_011527339.1:c.1259G>A	XP_011525641.1:p.Ter420=
XM_011527340.1:c.1109G>A	XP_011525642.1:p.Ter370=
XM_011527341.1:c.1109G>A	XP_011525643.1:p.Ter370=
XM_011527342.1:c.1088G>A	XP_011525644.1:p.Ter363=
XM_011527343.1:c.*242G>A	XP_011525645.1:n.*242G>A
XM_011527344.1:c.1061G>A	XP_011525646.1:p.Ter354=
XM_011527345.1:c.959G>A	XP_011525647.1:p.Ter320=
XM_011527346.1:c.959G>A	XP_011525648.1:p.Ter320=
XM_011527347.1:c.959G>A	XP_011525649.1:p.Ter320=
NM_001352262.1:c.1259G>A	NP_001339191.1:p.Ter420=
NM_001363663.1:c.1106G>A	NP_001350592.1:p.Ter369=
XM_006723399.3:c.*242G>A	XP_006723462.1:n.*242G>A
XM_011527341.2:c.1109G>A	XP_011525643.1:p.Ter370=
XM_011527342.2:c.1088G>A	XP_011525644.1:p.Ter363=
XM_017027321.1:c.956G>A	XP_016882810.1:p.Ter319=
XM_017027322.2:c.*242G>A	XP_016882811.1:n.*242G>A
XM_024451729.1:c.1088G>A	XP_024307497.1:p.Ter363=
XM_024451730.1:c.1085G>A	XP_024307498.1:p.Ter362=
XR_001753764.1:n.2031G>A
XR_001753765.1:n.1331G>A
XR_002958363.1:n.2282G>A
XR_002958364.1:n.2028G>A
XR_002958365.1:n.1921G>A
NM_001171937.2:c.1148G>A	NP_001165408.1:p.Ter383=
NM_001352262.2:c.1259G>A	NP_001339191.1:p.Ter420=
NM_025129.5:c.1256G>A MANE Select	NP_079405.2:p.Ter419=
NR_033269.2:n.1357G>A