Canonical Allele Identifier: CA508137655

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310624C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807367C>G , CM000681.2:g.49807367C>G	GRCh38
NC_000019.9:g.50310624C>G , CM000681.1:g.50310624C>G	GRCh37
NC_000019.8:g.55002436C>G	NCBI36
NG_032843.1:g.10944G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1041G>C MANE Select	ENSP00000313309.4:p.Gly347=
ENST00000313777.8:c.1041G>C	ENSP00000313309.4:p.Gly347=
ENST00000377092.8:c.*781G>C	ENSP00000366296.5:n.*781G>C
ENST00000525130.5:c.*695G>C	ENSP00000433492.1:n.*695G>C
ENST00000525370.5:c.*698G>C	ENSP00000431420.1:n.*698G>C
ENST00000528094.5:c.933G>C	ENSP00000435177.1:p.Gly311=
ENST00000529634.2:c.197G>C
ENST00000533418.5:c.891G>C	ENSP00000431731.1:p.Gly297=
NM_001171937.1:c.933G>C	NP_001165408.1:p.Gly311=
NM_025129.4:c.1041G>C	NP_079405.2:p.Gly347=
NR_033269.1:n.1160G>C
XM_006723399.2:c.*27G>C	XP_006723462.1:n.*27G>C
XM_011527339.1:c.1044G>C	XP_011525641.1:p.Gly348=
XM_011527340.1:c.894G>C	XP_011525642.1:p.Gly298=
XM_011527341.1:c.894G>C	XP_011525643.1:p.Gly298=
XM_011527342.1:c.873G>C	XP_011525644.1:p.Gly291=
XM_011527343.1:c.*27G>C	XP_011525645.1:n.*27G>C
XM_011527344.1:c.846G>C	XP_011525646.1:p.Gly282=
XM_011527345.1:c.744G>C	XP_011525647.1:p.Gly248=
XM_011527346.1:c.744G>C	XP_011525648.1:p.Gly248=
XM_011527347.1:c.744G>C	XP_011525649.1:p.Gly248=
XR_935862.1:n.1409G>C
NM_001352262.1:c.1044G>C	NP_001339191.1:p.Gly348=
NM_001363663.1:c.891G>C	NP_001350592.1:p.Gly297=
XM_006723399.3:c.*27G>C	XP_006723462.1:n.*27G>C
XM_011527341.2:c.894G>C	XP_011525643.1:p.Gly298=
XM_011527342.2:c.873G>C	XP_011525644.1:p.Gly291=
XM_017027321.1:c.741G>C	XP_016882810.1:p.Gly247=
XM_017027322.2:c.*27G>C	XP_016882811.1:n.*27G>C
XM_024451729.1:c.873G>C	XP_024307497.1:p.Gly291=
XM_024451730.1:c.870G>C	XP_024307498.1:p.Gly290=
XR_001753764.1:n.1816G>C
XR_001753765.1:n.1116G>C
XR_002958363.1:n.2067G>C
XR_002958364.1:n.1813G>C
XR_002958365.1:n.1706G>C
NM_001171937.2:c.933G>C	NP_001165408.1:p.Gly311=
NM_001352262.2:c.1044G>C	NP_001339191.1:p.Gly348=
NM_025129.5:c.1041G>C MANE Select	NP_079405.2:p.Gly347=
NR_033269.2:n.1142G>C