Canonical Allele Identifier: CA408587076

Gene: DNMT3B

Linked Data

• dbSNP Id: rs1291907040
• gnomAD v2: 20-31375257-G-C
• gnomAD v3: 20-32787451-G-C
• gnomAD v4: 20-32787451-G-C
• MyVariant Identifiers: chr20:g.31375257G>C (hg19) ; chr20:g.32787451G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32787451G>C , CM000682.2:g.32787451G>C	GRCh38
NC_000020.10:g.31375257G>C , CM000682.1:g.31375257G>C	GRCh37
NC_000020.9:g.30838918G>C	NCBI36
NG_007290.1:g.30067G>C , LRG_56:g.30067G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.654G>C	ENSP00000512497.1:p.Gln218His
ENST00000696232.1:c.654G>C	ENSP00000512498.1:p.Gln218His
ENST00000696233.1:c.654G>C	ENSP00000512499.1:p.Gln218His
ENST00000696234.1:n.638G>C
ENST00000696235.1:c.528G>C	ENSP00000512500.1:p.Gln176His
ENST00000696236.1:c.528G>C	ENSP00000512501.1:p.Gln176His
ENST00000696237.1:n.760G>C
ENST00000696238.1:c.654G>C	ENSP00000512502.1:p.Gln218His
ENST00000696239.1:c.654G>C	ENSP00000512503.1:p.Gln218His
ENST00000201963.3:c.690G>C	ENSP00000201963.3:p.Gln230His
ENST00000328111.6:c.654G>C MANE Select	ENSP00000328547.2:p.Gln218His
ENST00000348286.6:c.654G>C	ENSP00000337764.2:p.Gln218His
ENST00000353855.6:c.654G>C	ENSP00000313397.4:p.Gln218His
ENST00000443239.7:c.528G>C	ENSP00000403169.2:p.Gln176His
ENST00000456297.6:c.426G>C	ENSP00000412305.1:p.Gln142His
NM_001207055.1:c.528G>C	NP_001193984.1:p.Gln176His
NM_001207056.1:c.426G>C	NP_001193985.1:p.Gln142His
NM_006892.3:c.654G>C , LRG_56t1:c.654G>C	NP_008823.1:p.Gln218His
NM_175848.1:c.654G>C	NP_787044.1:p.Gln218His
NM_175849.1:c.654G>C	NP_787045.1:p.Gln218His
NM_175850.2:c.690G>C	NP_787046.1:p.Gln230His
XM_011528653.1:c.690G>C	XP_011526955.1:p.Gln230His
XM_011528654.1:c.564G>C	XP_011526956.1:p.Gln188His
XR_936510.1:n.826G>C
XR_936511.1:n.826G>C
XR_936512.1:n.701G>C
XM_011528653.2:c.690G>C	XP_011526955.1:p.Gln230His
XM_011528654.2:c.564G>C	XP_011526956.1:p.Gln188His
XR_936510.2:n.837G>C
XR_936511.2:n.837G>C
XR_936512.2:n.713G>C
NM_001207055.2:c.528G>C	NP_001193984.1:p.Gln176His
NM_001207056.2:c.426G>C	NP_001193985.1:p.Gln142His
NM_006892.4:c.654G>C MANE Select	NP_008823.1:p.Gln218His
NM_175848.2:c.654G>C	NP_787044.1:p.Gln218His
NM_175849.2:c.654G>C	NP_787045.1:p.Gln218His
NM_175850.3:c.690G>C	NP_787046.1:p.Gln230His