Canonical Allele Identifier: CA2814700694
Gene: FUZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49807149A>G , CM000681.2:g.49807149A>G GRCh38
NC_000019.9:g.50310406A>G , CM000681.1:g.50310406A>G GRCh37
NC_000019.8:g.55002218A>G NCBI36
NG_032843.1:g.11162T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313777.9:c.*2T>C MANE Select ENSP00000313309.4:n.*2T>C
ENST00000313777.8:c.*2T>C ENSP00000313309.4:n.*2T>C
ENST00000377092.8:c.*999T>C ENSP00000366296.5:n.*999T>C
ENST00000525130.5:c.*913T>C ENSP00000433492.1:n.*913T>C
ENST00000525370.5:c.*916T>C ENSP00000431420.1:n.*916T>C
ENST00000528094.5:c.*2T>C ENSP00000435177.1:n.*2T>C
ENST00000529634.2:c.415T>C
ENST00000533418.5:c.*2T>C ENSP00000431731.1:n.*2T>C
NM_001171937.1:c.*2T>C NP_001165408.1:n.*2T>C
NM_025129.4:c.*2T>C NP_079405.2:n.*2T>C
NR_033269.1:n.1378T>C
XM_006723399.2:c.*245T>C XP_006723462.1:n.*245T>C
XM_011527339.1:c.*2T>C XP_011525641.1:n.*2T>C
XM_011527340.1:c.*2T>C XP_011525642.1:n.*2T>C
XM_011527341.1:c.*2T>C XP_011525643.1:n.*2T>C
XM_011527342.1:c.*2T>C XP_011525644.1:n.*2T>C
XM_011527343.1:c.*245T>C XP_011525645.1:n.*245T>C
XM_011527344.1:c.*2T>C XP_011525646.1:n.*2T>C
XM_011527345.1:c.*2T>C XP_011525647.1:n.*2T>C
XM_011527346.1:c.*2T>C XP_011525648.1:n.*2T>C
XM_011527347.1:c.*2T>C XP_011525649.1:n.*2T>C
NM_001352262.1:c.*2T>C NP_001339191.1:n.*2T>C
NM_001363663.1:c.*2T>C NP_001350592.1:n.*2T>C
XM_006723399.3:c.*245T>C XP_006723462.1:n.*245T>C
XM_011527341.2:c.*2T>C XP_011525643.1:n.*2T>C
XM_011527342.2:c.*2T>C XP_011525644.1:n.*2T>C
XM_017027321.1:c.*2T>C XP_016882810.1:n.*2T>C
XM_017027322.2:c.*245T>C XP_016882811.1:n.*245T>C
XM_024451729.1:c.*2T>C XP_024307497.1:n.*2T>C
XM_024451730.1:c.*2T>C XP_024307498.1:n.*2T>C
XR_001753764.1:n.2034T>C
XR_001753765.1:n.1334T>C
XR_002958363.1:n.2285T>C
XR_002958364.1:n.2031T>C
XR_002958365.1:n.1924T>C
NM_001171937.2:c.*2T>C NP_001165408.1:n.*2T>C
NM_001352262.2:c.*2T>C NP_001339191.1:n.*2T>C
NM_025129.5:c.*2T>C MANE Select NP_079405.2:n.*2T>C
NR_033269.2:n.1360T>C