Canonical Allele Identifier: CA356761094

Gene: GUF1

Linked Data

• ClinVar Variation Id: 1477750
• ClinVar RCV Id: RCV002018820
• dbSNP Id: rs1714723934
• MyVariant Identifiers: chr4:g.44682794C>T (hg19) ; chr4:g.44680777C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.44680777C>T , CM000666.2:g.44680777C>T	GRCh38
NC_000004.11:g.44682794C>T , CM000666.1:g.44682794C>T	GRCh37
NC_000004.10:g.44377551C>T	NCBI36
NG_051569.1:g.7383C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281543.6:c.361C>T MANE Select	ENSP00000281543.5:p.Gln121Ter
ENST00000281543.5:c.361C>T	ENSP00000281543.5:p.Gln121Ter
ENST00000506793.5:n.243C>T
ENST00000513775.1:c.249C>T	ENSP00000422681.1:p.His83=
NM_021927.2:c.361C>T	NP_068746.2:p.Gln121Ter
XM_005248122.2:c.-612C>T	XP_005248179.1:n.-612C>T
XM_011513732.1:c.361C>T	XP_011512034.1:p.Gln121Ter
XM_011513733.1:c.211C>T	XP_011512035.1:p.Gln71Ter
XM_011513734.1:c.361C>T	XP_011512036.1:p.Gln121Ter
NM_001345867.1:c.-608C>T	NP_001332796.1:n.-608C>T
NM_001345868.1:c.361C>T	NP_001332797.1:p.Gln121Ter
NM_001345869.1:c.-612C>T	NP_001332798.1:n.-612C>T
XM_024454178.1:c.211C>T	XP_024309946.1:p.Gln71Ter
NM_021927.3:c.361C>T MANE Select	NP_068746.2:p.Gln121Ter
NM_001345867.2:c.-608C>T	NP_001332796.1:n.-608C>T
NM_001345868.2:c.361C>T	NP_001332797.1:p.Gln121Ter
NM_001345869.2:c.-612C>T	NP_001332798.1:n.-612C>T