Canonical Allele Identifier: CA356761360

Gene: GUF1

Linked Data

• ClinVar Variation Id: 2787119
• ClinVar RCV Id: RCV003660577
• gnomAD v4: 4-44681174-G-C
• MyVariant Identifiers: chr4:g.44683191G>C (hg19) ; chr4:g.44681174G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.44681174G>C , CM000666.2:g.44681174G>C	GRCh38
NC_000004.11:g.44683191G>C , CM000666.1:g.44683191G>C	GRCh37
NC_000004.10:g.44377948G>C	NCBI36
NG_051569.1:g.7780G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281543.6:c.478G>C MANE Select	ENSP00000281543.5:p.Gly160Arg
ENST00000281543.5:c.478G>C	ENSP00000281543.5:p.Gly160Arg
ENST00000506793.5:n.360G>C
ENST00000513775.1:c.*69G>C	ENSP00000422681.1:n.*69G>C
NM_021927.2:c.478G>C	NP_068746.2:p.Gly160Arg
XM_005248122.2:c.-495G>C	XP_005248179.1:n.-495G>C
XM_011513732.1:c.478G>C	XP_011512034.1:p.Gly160Arg
XM_011513733.1:c.328G>C	XP_011512035.1:p.Gly110Arg
XM_011513734.1:c.478G>C	XP_011512036.1:p.Gly160Arg
NM_001345867.1:c.-491G>C	NP_001332796.1:n.-491G>C
NM_001345868.1:c.478G>C	NP_001332797.1:p.Gly160Arg
NM_001345869.1:c.-495G>C	NP_001332798.1:n.-495G>C
XM_024454178.1:c.328G>C	XP_024309946.1:p.Gly110Arg
NM_021927.3:c.478G>C MANE Select	NP_068746.2:p.Gly160Arg
NM_001345867.2:c.-491G>C	NP_001332796.1:n.-491G>C
NM_001345868.2:c.478G>C	NP_001332797.1:p.Gly160Arg
NM_001345869.2:c.-495G>C	NP_001332798.1:n.-495G>C