Canonical Allele Identifier: CA9810259

Gene: DNMT3B

Linked Data

• dbSNP Id: rs778368772
• ExAC: 20:31375191 G / A
• gnomAD v2: 20-31375191-G-A
• gnomAD v4: 20-32787385-G-A
• COSMIC: COSM4798512 ; COSM4798513
• MyVariant Identifiers: chr20:g.31375191G>A (hg19) ; chr20:g.32787385G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32787385G>A , CM000682.2:g.32787385G>A	GRCh38
NC_000020.10:g.31375191G>A , CM000682.1:g.31375191G>A	GRCh37
NC_000020.9:g.30838852G>A	NCBI36
NG_007290.1:g.30001G>A , LRG_56:g.30001G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.588G>A	ENSP00000512497.1:p.Gln196=
ENST00000696232.1:c.588G>A	ENSP00000512498.1:p.Gln196=
ENST00000696233.1:c.588G>A	ENSP00000512499.1:p.Gln196=
ENST00000696234.1:n.572G>A
ENST00000696235.1:c.462G>A	ENSP00000512500.1:p.Gln154=
ENST00000696236.1:c.462G>A	ENSP00000512501.1:p.Gln154=
ENST00000696237.1:n.694G>A
ENST00000696238.1:c.588G>A	ENSP00000512502.1:p.Gln196=
ENST00000696239.1:c.588G>A	ENSP00000512503.1:p.Gln196=
ENST00000201963.3:c.624G>A	ENSP00000201963.3:p.Gln208=
ENST00000328111.6:c.588G>A MANE Select	ENSP00000328547.2:p.Gln196=
ENST00000348286.6:c.588G>A	ENSP00000337764.2:p.Gln196=
ENST00000353855.6:c.588G>A	ENSP00000313397.4:p.Gln196=
ENST00000443239.7:c.462G>A	ENSP00000403169.2:p.Gln154=
ENST00000456297.6:c.360G>A	ENSP00000412305.1:p.Gln120=
NM_001207055.1:c.462G>A	NP_001193984.1:p.Gln154=
NM_001207056.1:c.360G>A	NP_001193985.1:p.Gln120=
NM_006892.3:c.588G>A , LRG_56t1:c.588G>A	NP_008823.1:p.Gln196=
NM_175848.1:c.588G>A	NP_787044.1:p.Gln196=
NM_175849.1:c.588G>A	NP_787045.1:p.Gln196=
NM_175850.2:c.624G>A	NP_787046.1:p.Gln208=
XM_011528653.1:c.624G>A	XP_011526955.1:p.Gln208=
XM_011528654.1:c.498G>A	XP_011526956.1:p.Gln166=
XR_936510.1:n.760G>A
XR_936511.1:n.760G>A
XR_936512.1:n.635G>A
XM_011528653.2:c.624G>A	XP_011526955.1:p.Gln208=
XM_011528654.2:c.498G>A	XP_011526956.1:p.Gln166=
XR_936510.2:n.771G>A
XR_936511.2:n.771G>A
XR_936512.2:n.647G>A
NM_001207055.2:c.462G>A	NP_001193984.1:p.Gln154=
NM_001207056.2:c.360G>A	NP_001193985.1:p.Gln120=
NM_006892.4:c.588G>A MANE Select	NP_008823.1:p.Gln196=
NM_175848.2:c.588G>A	NP_787044.1:p.Gln196=
NM_175849.2:c.588G>A	NP_787045.1:p.Gln196=
NM_175850.3:c.624G>A	NP_787046.1:p.Gln208=