Canonical Allele Identifier: CA9584201

Gene: FUZ

Linked Data

• dbSNP Id: rs769347378
• ExAC: 19:50310527 G / C
• gnomAD v2: 19-50310527-G-C
• gnomAD v4: 19-49807270-G-C
• MyVariant Identifiers: chr19:g.50310527G>C (hg19) ; chr19:g.49807270G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807270G>C , CM000681.2:g.49807270G>C	GRCh38
NC_000019.9:g.50310527G>C , CM000681.1:g.50310527G>C	GRCh37
NC_000019.8:g.55002339G>C	NCBI36
NG_032843.1:g.11041C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1138C>G MANE Select	ENSP00000313309.4:p.Leu380Val
ENST00000313777.8:c.1138C>G	ENSP00000313309.4:p.Leu380Val
ENST00000377092.8:c.*878C>G	ENSP00000366296.5:n.*878C>G
ENST00000525130.5:c.*792C>G	ENSP00000433492.1:n.*792C>G
ENST00000525370.5:c.*795C>G	ENSP00000431420.1:n.*795C>G
ENST00000528094.5:c.1030C>G	ENSP00000435177.1:p.Leu344Val
ENST00000529634.2:c.294C>G
ENST00000533418.5:c.988C>G	ENSP00000431731.1:p.Leu330Val
NM_001171937.1:c.1030C>G	NP_001165408.1:p.Leu344Val
NM_025129.4:c.1138C>G	NP_079405.2:p.Leu380Val
NR_033269.1:n.1257C>G
XM_006723399.2:c.*124C>G	XP_006723462.1:n.*124C>G
XM_011527339.1:c.1141C>G	XP_011525641.1:p.Leu381Val
XM_011527340.1:c.991C>G	XP_011525642.1:p.Leu331Val
XM_011527341.1:c.991C>G	XP_011525643.1:p.Leu331Val
XM_011527342.1:c.970C>G	XP_011525644.1:p.Leu324Val
XM_011527343.1:c.*124C>G	XP_011525645.1:n.*124C>G
XM_011527344.1:c.943C>G	XP_011525646.1:p.Leu315Val
XM_011527345.1:c.841C>G	XP_011525647.1:p.Leu281Val
XM_011527346.1:c.841C>G	XP_011525648.1:p.Leu281Val
XM_011527347.1:c.841C>G	XP_011525649.1:p.Leu281Val
NM_001352262.1:c.1141C>G	NP_001339191.1:p.Leu381Val
NM_001363663.1:c.988C>G	NP_001350592.1:p.Leu330Val
XM_006723399.3:c.*124C>G	XP_006723462.1:n.*124C>G
XM_011527341.2:c.991C>G	XP_011525643.1:p.Leu331Val
XM_011527342.2:c.970C>G	XP_011525644.1:p.Leu324Val
XM_017027321.1:c.838C>G	XP_016882810.1:p.Leu280Val
XM_017027322.2:c.*124C>G	XP_016882811.1:n.*124C>G
XM_024451729.1:c.970C>G	XP_024307497.1:p.Leu324Val
XM_024451730.1:c.967C>G	XP_024307498.1:p.Leu323Val
XR_001753764.1:n.1913C>G
XR_001753765.1:n.1213C>G
XR_002958363.1:n.2164C>G
XR_002958364.1:n.1910C>G
XR_002958365.1:n.1803C>G
NM_001171937.2:c.1030C>G	NP_001165408.1:p.Leu344Val
NM_001352262.2:c.1141C>G	NP_001339191.1:p.Leu381Val
NM_025129.5:c.1138C>G MANE Select	NP_079405.2:p.Leu380Val
NR_033269.2:n.1239C>G