Canonical Allele Identifier: CA9584210

Gene: FUZ

Linked Data

• dbSNP Id: rs765449286
• ExAC: 19:50310566 G / A
• gnomAD v2: 19-50310566-G-A
• gnomAD v4: 19-49807309-G-A
• MyVariant Identifiers: chr19:g.50310566G>A (hg19) ; chr19:g.49807309G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807309G>A , CM000681.2:g.49807309G>A	GRCh38
NC_000019.9:g.50310566G>A , CM000681.1:g.50310566G>A	GRCh37
NC_000019.8:g.55002378G>A	NCBI36
NG_032843.1:g.11002C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1099C>T MANE Select	ENSP00000313309.4:p.Leu367=
ENST00000313777.8:c.1099C>T	ENSP00000313309.4:p.Leu367=
ENST00000377092.8:c.*839C>T	ENSP00000366296.5:n.*839C>T
ENST00000525130.5:c.*753C>T	ENSP00000433492.1:n.*753C>T
ENST00000525370.5:c.*756C>T	ENSP00000431420.1:n.*756C>T
ENST00000528094.5:c.991C>T	ENSP00000435177.1:p.Leu331=
ENST00000529634.2:c.255C>T
ENST00000533418.5:c.949C>T	ENSP00000431731.1:p.Leu317=
NM_001171937.1:c.991C>T	NP_001165408.1:p.Leu331=
NM_025129.4:c.1099C>T	NP_079405.2:p.Leu367=
NR_033269.1:n.1218C>T
XM_006723399.2:c.*85C>T	XP_006723462.1:n.*85C>T
XM_011527339.1:c.1102C>T	XP_011525641.1:p.Leu368=
XM_011527340.1:c.952C>T	XP_011525642.1:p.Leu318=
XM_011527341.1:c.952C>T	XP_011525643.1:p.Leu318=
XM_011527342.1:c.931C>T	XP_011525644.1:p.Leu311=
XM_011527343.1:c.*85C>T	XP_011525645.1:n.*85C>T
XM_011527344.1:c.904C>T	XP_011525646.1:p.Leu302=
XM_011527345.1:c.802C>T	XP_011525647.1:p.Leu268=
XM_011527346.1:c.802C>T	XP_011525648.1:p.Leu268=
XM_011527347.1:c.802C>T	XP_011525649.1:p.Leu268=
XR_935862.1:n.1467C>T
NM_001352262.1:c.1102C>T	NP_001339191.1:p.Leu368=
NM_001363663.1:c.949C>T	NP_001350592.1:p.Leu317=
XM_006723399.3:c.*85C>T	XP_006723462.1:n.*85C>T
XM_011527341.2:c.952C>T	XP_011525643.1:p.Leu318=
XM_011527342.2:c.931C>T	XP_011525644.1:p.Leu311=
XM_017027321.1:c.799C>T	XP_016882810.1:p.Leu267=
XM_017027322.2:c.*85C>T	XP_016882811.1:n.*85C>T
XM_024451729.1:c.931C>T	XP_024307497.1:p.Leu311=
XM_024451730.1:c.928C>T	XP_024307498.1:p.Leu310=
XR_001753764.1:n.1874C>T
XR_001753765.1:n.1174C>T
XR_002958363.1:n.2125C>T
XR_002958364.1:n.1871C>T
XR_002958365.1:n.1764C>T
NM_001171937.2:c.991C>T	NP_001165408.1:p.Leu331=
NM_001352262.2:c.1102C>T	NP_001339191.1:p.Leu368=
NM_025129.5:c.1099C>T MANE Select	NP_079405.2:p.Leu367=
NR_033269.2:n.1200C>T