Canonical Allele Identifier: CA406900052

Gene: FUZ

Linked Data

• dbSNP Id: rs1466328918
• gnomAD v2: 19-50310506-G-A
• gnomAD v4: 19-49807249-G-A
• COSMIC: COSM5056839
• MyVariant Identifiers: chr19:g.50310506G>A (hg19) ; chr19:g.49807249G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807249G>A , CM000681.2:g.49807249G>A	GRCh38
NC_000019.9:g.50310506G>A , CM000681.1:g.50310506G>A	GRCh37
NC_000019.8:g.55002318G>A	NCBI36
NG_032843.1:g.11062C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1159C>T MANE Select	ENSP00000313309.4:p.Leu387Phe
ENST00000313777.8:c.1159C>T	ENSP00000313309.4:p.Leu387Phe
ENST00000377092.8:c.*899C>T	ENSP00000366296.5:n.*899C>T
ENST00000525130.5:c.*813C>T	ENSP00000433492.1:n.*813C>T
ENST00000525370.5:c.*816C>T	ENSP00000431420.1:n.*816C>T
ENST00000528094.5:c.1051C>T	ENSP00000435177.1:p.Leu351Phe
ENST00000529634.2:c.315C>T
ENST00000533418.5:c.1009C>T	ENSP00000431731.1:p.Leu337Phe
NM_001171937.1:c.1051C>T	NP_001165408.1:p.Leu351Phe
NM_025129.4:c.1159C>T	NP_079405.2:p.Leu387Phe
NR_033269.1:n.1278C>T
XM_006723399.2:c.*145C>T	XP_006723462.1:n.*145C>T
XM_011527339.1:c.1162C>T	XP_011525641.1:p.Leu388Phe
XM_011527340.1:c.1012C>T	XP_011525642.1:p.Leu338Phe
XM_011527341.1:c.1012C>T	XP_011525643.1:p.Leu338Phe
XM_011527342.1:c.991C>T	XP_011525644.1:p.Leu331Phe
XM_011527343.1:c.*145C>T	XP_011525645.1:n.*145C>T
XM_011527344.1:c.964C>T	XP_011525646.1:p.Leu322Phe
XM_011527345.1:c.862C>T	XP_011525647.1:p.Leu288Phe
XM_011527346.1:c.862C>T	XP_011525648.1:p.Leu288Phe
XM_011527347.1:c.862C>T	XP_011525649.1:p.Leu288Phe
NM_001352262.1:c.1162C>T	NP_001339191.1:p.Leu388Phe
NM_001363663.1:c.1009C>T	NP_001350592.1:p.Leu337Phe
XM_006723399.3:c.*145C>T	XP_006723462.1:n.*145C>T
XM_011527341.2:c.1012C>T	XP_011525643.1:p.Leu338Phe
XM_011527342.2:c.991C>T	XP_011525644.1:p.Leu331Phe
XM_017027321.1:c.859C>T	XP_016882810.1:p.Leu287Phe
XM_017027322.2:c.*145C>T	XP_016882811.1:n.*145C>T
XM_024451729.1:c.991C>T	XP_024307497.1:p.Leu331Phe
XM_024451730.1:c.988C>T	XP_024307498.1:p.Leu330Phe
XR_001753764.1:n.1934C>T
XR_001753765.1:n.1234C>T
XR_002958363.1:n.2185C>T
XR_002958364.1:n.1931C>T
XR_002958365.1:n.1824C>T
NM_001171937.2:c.1051C>T	NP_001165408.1:p.Leu351Phe
NM_001352262.2:c.1162C>T	NP_001339191.1:p.Leu388Phe
NM_025129.5:c.1159C>T MANE Select	NP_079405.2:p.Leu387Phe
NR_033269.2:n.1260C>T