Canonical Allele Identifier: CA508137550

Gene: FUZ

Linked Data

• dbSNP Id: rs1389602641
• gnomAD v2: 19-50310516-C-T
• gnomAD v4: 19-49807259-C-T
• MyVariant Identifiers: chr19:g.50310516C>T (hg19) ; chr19:g.49807259C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807259C>T , CM000681.2:g.49807259C>T	GRCh38
NC_000019.9:g.50310516C>T , CM000681.1:g.50310516C>T	GRCh37
NC_000019.8:g.55002328C>T	NCBI36
NG_032843.1:g.11052G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1149G>A MANE Select	ENSP00000313309.4:p.Leu383=
ENST00000313777.8:c.1149G>A	ENSP00000313309.4:p.Leu383=
ENST00000377092.8:c.*889G>A	ENSP00000366296.5:n.*889G>A
ENST00000525130.5:c.*803G>A	ENSP00000433492.1:n.*803G>A
ENST00000525370.5:c.*806G>A	ENSP00000431420.1:n.*806G>A
ENST00000528094.5:c.1041G>A	ENSP00000435177.1:p.Leu347=
ENST00000529634.2:c.305G>A
ENST00000533418.5:c.999G>A	ENSP00000431731.1:p.Leu333=
NM_001171937.1:c.1041G>A	NP_001165408.1:p.Leu347=
NM_025129.4:c.1149G>A	NP_079405.2:p.Leu383=
NR_033269.1:n.1268G>A
XM_006723399.2:c.*135G>A	XP_006723462.1:n.*135G>A
XM_011527339.1:c.1152G>A	XP_011525641.1:p.Leu384=
XM_011527340.1:c.1002G>A	XP_011525642.1:p.Leu334=
XM_011527341.1:c.1002G>A	XP_011525643.1:p.Leu334=
XM_011527342.1:c.981G>A	XP_011525644.1:p.Leu327=
XM_011527343.1:c.*135G>A	XP_011525645.1:n.*135G>A
XM_011527344.1:c.954G>A	XP_011525646.1:p.Leu318=
XM_011527345.1:c.852G>A	XP_011525647.1:p.Leu284=
XM_011527346.1:c.852G>A	XP_011525648.1:p.Leu284=
XM_011527347.1:c.852G>A	XP_011525649.1:p.Leu284=
NM_001352262.1:c.1152G>A	NP_001339191.1:p.Leu384=
NM_001363663.1:c.999G>A	NP_001350592.1:p.Leu333=
XM_006723399.3:c.*135G>A	XP_006723462.1:n.*135G>A
XM_011527341.2:c.1002G>A	XP_011525643.1:p.Leu334=
XM_011527342.2:c.981G>A	XP_011525644.1:p.Leu327=
XM_017027321.1:c.849G>A	XP_016882810.1:p.Leu283=
XM_017027322.2:c.*135G>A	XP_016882811.1:n.*135G>A
XM_024451729.1:c.981G>A	XP_024307497.1:p.Leu327=
XM_024451730.1:c.978G>A	XP_024307498.1:p.Leu326=
XR_001753764.1:n.1924G>A
XR_001753765.1:n.1224G>A
XR_002958363.1:n.2175G>A
XR_002958364.1:n.1921G>A
XR_002958365.1:n.1814G>A
NM_001171937.2:c.1041G>A	NP_001165408.1:p.Leu347=
NM_001352262.2:c.1152G>A	NP_001339191.1:p.Leu384=
NM_025129.5:c.1149G>A MANE Select	NP_079405.2:p.Leu383=
NR_033269.2:n.1250G>A