Canonical Allele Identifier: CA9810219

Gene: DNMT3B

Linked Data

• ClinVar Variation Id: 1980212
• ClinVar RCV Id: RCV002756461 ; RCV002756462
• dbSNP Id: rs779571584
• ExAC: 20:31375049 G / A
• gnomAD v2: 20-31375049-G-A
• gnomAD v3: 20-32787243-G-A
• gnomAD v4: 20-32787243-G-A
• MyVariant Identifiers: chr20:g.31375049G>A (hg19) ; chr20:g.32787243G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32787243G>A , CM000682.2:g.32787243G>A	GRCh38
NC_000020.10:g.31375049G>A , CM000682.1:g.31375049G>A	GRCh37
NC_000020.9:g.30838710G>A	NCBI36
NG_007290.1:g.29859G>A , LRG_56:g.29859G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.446G>A	ENSP00000512497.1:p.Arg149Gln
ENST00000696232.1:c.446G>A	ENSP00000512498.1:p.Arg149Gln
ENST00000696233.1:c.446G>A	ENSP00000512499.1:p.Arg149Gln
ENST00000696234.1:n.430G>A
ENST00000696235.1:c.320G>A	ENSP00000512500.1:p.Arg107Gln
ENST00000696236.1:c.320G>A	ENSP00000512501.1:p.Arg107Gln
ENST00000696237.1:n.552G>A
ENST00000696238.1:c.446G>A	ENSP00000512502.1:p.Arg149Gln
ENST00000696239.1:c.446G>A	ENSP00000512503.1:p.Arg149Gln
ENST00000201963.3:c.482G>A	ENSP00000201963.3:p.Arg161Gln
ENST00000328111.6:c.446G>A MANE Select	ENSP00000328547.2:p.Arg149Gln
ENST00000348286.6:c.446G>A	ENSP00000337764.2:p.Arg149Gln
ENST00000353855.6:c.446G>A	ENSP00000313397.4:p.Arg149Gln
ENST00000443239.7:c.320G>A	ENSP00000403169.2:p.Arg107Gln
ENST00000456297.6:c.218G>A	ENSP00000412305.1:p.Arg73Gln
NM_001207055.1:c.320G>A	NP_001193984.1:p.Arg107Gln
NM_001207056.1:c.218G>A	NP_001193985.1:p.Arg73Gln
NM_006892.3:c.446G>A , LRG_56t1:c.446G>A	NP_008823.1:p.Arg149Gln
NM_175848.1:c.446G>A	NP_787044.1:p.Arg149Gln
NM_175849.1:c.446G>A	NP_787045.1:p.Arg149Gln
NM_175850.2:c.482G>A	NP_787046.1:p.Arg161Gln
XM_011528653.1:c.482G>A	XP_011526955.1:p.Arg161Gln
XM_011528654.1:c.356G>A	XP_011526956.1:p.Arg119Gln
XR_936510.1:n.618G>A
XR_936511.1:n.618G>A
XR_936512.1:n.493G>A
XM_011528653.2:c.482G>A	XP_011526955.1:p.Arg161Gln
XM_011528654.2:c.356G>A	XP_011526956.1:p.Arg119Gln
XR_936510.2:n.629G>A
XR_936511.2:n.629G>A
XR_936512.2:n.505G>A
NM_001207055.2:c.320G>A	NP_001193984.1:p.Arg107Gln
NM_001207056.2:c.218G>A	NP_001193985.1:p.Arg73Gln
NM_006892.4:c.446G>A MANE Select	NP_008823.1:p.Arg149Gln
NM_175848.2:c.446G>A	NP_787044.1:p.Arg149Gln
NM_175849.2:c.446G>A	NP_787045.1:p.Arg149Gln
NM_175850.3:c.482G>A	NP_787046.1:p.Arg161Gln