Canonical Allele Identifier: CA9810227

Gene: DNMT3B

Linked Data

• ClinVar Variation Id: 569258
• ClinVar RCV Id: RCV000689842
• dbSNP Id: rs759777486
• ExAC: 20:31375070 C / T
• gnomAD v2: 20-31375070-C-T
• gnomAD v3: 20-32787264-C-T
• gnomAD v4: 20-32787264-C-T
• MyVariant Identifiers: chr20:g.31375070C>T (hg19) ; chr20:g.32787264C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32787264C>T , CM000682.2:g.32787264C>T	GRCh38
NC_000020.10:g.31375070C>T , CM000682.1:g.31375070C>T	GRCh37
NC_000020.9:g.30838731C>T	NCBI36
NG_007290.1:g.29880C>T , LRG_56:g.29880C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.467C>T	ENSP00000512497.1:p.Thr156Met
ENST00000696232.1:c.467C>T	ENSP00000512498.1:p.Thr156Met
ENST00000696233.1:c.467C>T	ENSP00000512499.1:p.Thr156Met
ENST00000696234.1:n.451C>T
ENST00000696235.1:c.341C>T	ENSP00000512500.1:p.Thr114Met
ENST00000696236.1:c.341C>T	ENSP00000512501.1:p.Thr114Met
ENST00000696237.1:n.573C>T
ENST00000696238.1:c.467C>T	ENSP00000512502.1:p.Thr156Met
ENST00000696239.1:c.467C>T	ENSP00000512503.1:p.Thr156Met
ENST00000201963.3:c.503C>T	ENSP00000201963.3:p.Thr168Met
ENST00000328111.6:c.467C>T MANE Select	ENSP00000328547.2:p.Thr156Met
ENST00000348286.6:c.467C>T	ENSP00000337764.2:p.Thr156Met
ENST00000353855.6:c.467C>T	ENSP00000313397.4:p.Thr156Met
ENST00000443239.7:c.341C>T	ENSP00000403169.2:p.Thr114Met
ENST00000456297.6:c.239C>T	ENSP00000412305.1:p.Thr80Met
NM_001207055.1:c.341C>T	NP_001193984.1:p.Thr114Met
NM_001207056.1:c.239C>T	NP_001193985.1:p.Thr80Met
NM_006892.3:c.467C>T , LRG_56t1:c.467C>T	NP_008823.1:p.Thr156Met
NM_175848.1:c.467C>T	NP_787044.1:p.Thr156Met
NM_175849.1:c.467C>T	NP_787045.1:p.Thr156Met
NM_175850.2:c.503C>T	NP_787046.1:p.Thr168Met
XM_011528653.1:c.503C>T	XP_011526955.1:p.Thr168Met
XM_011528654.1:c.377C>T	XP_011526956.1:p.Thr126Met
XR_936510.1:n.639C>T
XR_936511.1:n.639C>T
XR_936512.1:n.514C>T
XM_011528653.2:c.503C>T	XP_011526955.1:p.Thr168Met
XM_011528654.2:c.377C>T	XP_011526956.1:p.Thr126Met
XR_936510.2:n.650C>T
XR_936511.2:n.650C>T
XR_936512.2:n.526C>T
NM_001207055.2:c.341C>T	NP_001193984.1:p.Thr114Met
NM_001207056.2:c.239C>T	NP_001193985.1:p.Thr80Met
NM_006892.4:c.467C>T MANE Select	NP_008823.1:p.Thr156Met
NM_175848.2:c.467C>T	NP_787044.1:p.Thr156Met
NM_175849.2:c.467C>T	NP_787045.1:p.Thr156Met
NM_175850.3:c.503C>T	NP_787046.1:p.Thr168Met