Canonical Allele Identifier: CA309493748

Gene: FUZ

Linked Data

• dbSNP Id: rs1054199461
• gnomAD v3: 19-49807548-A-G
• gnomAD v4: 19-49807548-A-G
• MyVariant Identifiers: chr19:g.50310805A>G (hg19) ; chr19:g.49807548A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807548A>G , CM000681.2:g.49807548A>G	GRCh38
NC_000019.9:g.50310805A>G , CM000681.1:g.50310805A>G	GRCh37
NC_000019.8:g.55002617A>G	NCBI36
NG_032843.1:g.10763T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1034-174T>C MANE Select	ENSP00000313309.4:n.1034-174T>C
ENST00000313777.8:c.1034-174T>C	ENSP00000313309.4:n.1034-174T>C
ENST00000377092.8:c.*774-174T>C	ENSP00000366296.5:n.*774-174T>C
ENST00000525130.5:c.*688-174T>C	ENSP00000433492.1:n.*688-174T>C
ENST00000525370.5:c.*691-174T>C	ENSP00000431420.1:n.*691-174T>C
ENST00000528094.5:c.926-174T>C	ENSP00000435177.1:n.926-174T>C
ENST00000529634.2:c.190-174T>C
ENST00000533418.5:c.884-174T>C	ENSP00000431731.1:n.884-174T>C
NM_001171937.1:c.926-174T>C	NP_001165408.1:n.926-174T>C
NM_025129.4:c.1034-174T>C	NP_079405.2:n.1034-174T>C
NR_033269.1:n.1153-174T>C
XM_006723399.2:c.*20-174T>C	XP_006723462.1:n.*20-174T>C
XM_011527339.1:c.1037-174T>C	XP_011525641.1:n.1037-174T>C
XM_011527340.1:c.887-174T>C	XP_011525642.1:n.887-174T>C
XM_011527341.1:c.887-174T>C	XP_011525643.1:n.887-174T>C
XM_011527342.1:c.866-174T>C	XP_011525644.1:n.866-174T>C
XM_011527343.1:c.*20-174T>C	XP_011525645.1:n.*20-174T>C
XM_011527344.1:c.839-174T>C	XP_011525646.1:n.839-174T>C
XM_011527345.1:c.737-174T>C	XP_011525647.1:n.737-174T>C
XM_011527346.1:c.737-174T>C	XP_011525648.1:n.737-174T>C
XM_011527347.1:c.737-174T>C	XP_011525649.1:n.737-174T>C
XR_935862.1:n.1401+22T>C
NM_001352262.1:c.1037-174T>C	NP_001339191.1:n.1037-174T>C
NM_001363663.1:c.884-174T>C	NP_001350592.1:n.884-174T>C
XM_006723399.3:c.*20-174T>C	XP_006723462.1:n.*20-174T>C
XM_011527341.2:c.887-174T>C	XP_011525643.1:n.887-174T>C
XM_011527342.2:c.866-174T>C	XP_011525644.1:n.866-174T>C
XM_017027320.1:c.*20-153T>C	XP_016882809.1:n.*20-153T>C
XM_017027321.1:c.734-174T>C	XP_016882810.1:n.734-174T>C
XM_017027322.2:c.*20-174T>C	XP_016882811.1:n.*20-174T>C
XM_024451729.1:c.866-174T>C	XP_024307497.1:n.866-174T>C
XM_024451730.1:c.863-174T>C	XP_024307498.1:n.863-174T>C
XR_001753764.1:n.1808+22T>C
XR_001753765.1:n.1109-174T>C
XR_002958363.1:n.2059+22T>C
XR_002958364.1:n.1805+22T>C
XR_002958365.1:n.1698+22T>C
NM_001171937.2:c.926-174T>C	NP_001165408.1:n.926-174T>C
NM_001352262.2:c.1037-174T>C	NP_001339191.1:n.1037-174T>C
NM_025129.5:c.1034-174T>C MANE Select	NP_079405.2:n.1034-174T>C
NR_033269.2:n.1135-174T>C