Canonical Allele Identifier: CA408586567

Gene: DNMT3B

Linked Data

• gnomAD v4: 20-32787305-C-G
• MyVariant Identifiers: chr20:g.31375111C>G (hg19) ; chr20:g.32787305C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32787305C>G , CM000682.2:g.32787305C>G	GRCh38
NC_000020.10:g.31375111C>G , CM000682.1:g.31375111C>G	GRCh37
NC_000020.9:g.30838772C>G	NCBI36
NG_007290.1:g.29921C>G , LRG_56:g.29921C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.508C>G	ENSP00000512497.1:p.Leu170Val
ENST00000696232.1:c.508C>G	ENSP00000512498.1:p.Leu170Val
ENST00000696233.1:c.508C>G	ENSP00000512499.1:p.Leu170Val
ENST00000696234.1:n.492C>G
ENST00000696235.1:c.382C>G	ENSP00000512500.1:p.Leu128Val
ENST00000696236.1:c.382C>G	ENSP00000512501.1:p.Leu128Val
ENST00000696237.1:n.614C>G
ENST00000696238.1:c.508C>G	ENSP00000512502.1:p.Leu170Val
ENST00000696239.1:c.508C>G	ENSP00000512503.1:p.Leu170Val
ENST00000201963.3:c.544C>G	ENSP00000201963.3:p.Leu182Val
ENST00000328111.6:c.508C>G MANE Select	ENSP00000328547.2:p.Leu170Val
ENST00000348286.6:c.508C>G	ENSP00000337764.2:p.Leu170Val
ENST00000353855.6:c.508C>G	ENSP00000313397.4:p.Leu170Val
ENST00000443239.7:c.382C>G	ENSP00000403169.2:p.Leu128Val
ENST00000456297.6:c.280C>G	ENSP00000412305.1:p.Leu94Val
NM_001207055.1:c.382C>G	NP_001193984.1:p.Leu128Val
NM_001207056.1:c.280C>G	NP_001193985.1:p.Leu94Val
NM_006892.3:c.508C>G , LRG_56t1:c.508C>G	NP_008823.1:p.Leu170Val
NM_175848.1:c.508C>G	NP_787044.1:p.Leu170Val
NM_175849.1:c.508C>G	NP_787045.1:p.Leu170Val
NM_175850.2:c.544C>G	NP_787046.1:p.Leu182Val
XM_011528653.1:c.544C>G	XP_011526955.1:p.Leu182Val
XM_011528654.1:c.418C>G	XP_011526956.1:p.Leu140Val
XR_936510.1:n.680C>G
XR_936511.1:n.680C>G
XR_936512.1:n.555C>G
XM_011528653.2:c.544C>G	XP_011526955.1:p.Leu182Val
XM_011528654.2:c.418C>G	XP_011526956.1:p.Leu140Val
XR_936510.2:n.691C>G
XR_936511.2:n.691C>G
XR_936512.2:n.567C>G
NM_001207055.2:c.382C>G	NP_001193984.1:p.Leu128Val
NM_001207056.2:c.280C>G	NP_001193985.1:p.Leu94Val
NM_006892.4:c.508C>G MANE Select	NP_008823.1:p.Leu170Val
NM_175848.2:c.508C>G	NP_787044.1:p.Leu170Val
NM_175849.2:c.508C>G	NP_787045.1:p.Leu170Val
NM_175850.3:c.544C>G	NP_787046.1:p.Leu182Val