Canonical Allele Identifier: CA9810260

Gene: DNMT3B

Linked Data

• ClinVar Variation Id: 3084820
• ClinVar RCV Id: RCV004381683
• dbSNP Id: rs747675921
• ExAC: 20:31375194 G / T
• gnomAD v2: 20-31375194-G-T
• MyVariant Identifiers: chr20:g.31375194G>T (hg19) ; chr20:g.32787388G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32787388G>T , CM000682.2:g.32787388G>T	GRCh38
NC_000020.10:g.31375194G>T , CM000682.1:g.31375194G>T	GRCh37
NC_000020.9:g.30838855G>T	NCBI36
NG_007290.1:g.30004G>T , LRG_56:g.30004G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.591G>T	ENSP00000512497.1:p.Gln197His
ENST00000696232.1:c.591G>T	ENSP00000512498.1:p.Gln197His
ENST00000696233.1:c.591G>T	ENSP00000512499.1:p.Gln197His
ENST00000696234.1:n.575G>T
ENST00000696235.1:c.465G>T	ENSP00000512500.1:p.Gln155His
ENST00000696236.1:c.465G>T	ENSP00000512501.1:p.Gln155His
ENST00000696237.1:n.697G>T
ENST00000696238.1:c.591G>T	ENSP00000512502.1:p.Gln197His
ENST00000696239.1:c.591G>T	ENSP00000512503.1:p.Gln197His
ENST00000201963.3:c.627G>T	ENSP00000201963.3:p.Gln209His
ENST00000328111.6:c.591G>T MANE Select	ENSP00000328547.2:p.Gln197His
ENST00000348286.6:c.591G>T	ENSP00000337764.2:p.Gln197His
ENST00000353855.6:c.591G>T	ENSP00000313397.4:p.Gln197His
ENST00000443239.7:c.465G>T	ENSP00000403169.2:p.Gln155His
ENST00000456297.6:c.363G>T	ENSP00000412305.1:p.Gln121His
NM_001207055.1:c.465G>T	NP_001193984.1:p.Gln155His
NM_001207056.1:c.363G>T	NP_001193985.1:p.Gln121His
NM_006892.3:c.591G>T , LRG_56t1:c.591G>T	NP_008823.1:p.Gln197His
NM_175848.1:c.591G>T	NP_787044.1:p.Gln197His
NM_175849.1:c.591G>T	NP_787045.1:p.Gln197His
NM_175850.2:c.627G>T	NP_787046.1:p.Gln209His
XM_011528653.1:c.627G>T	XP_011526955.1:p.Gln209His
XM_011528654.1:c.501G>T	XP_011526956.1:p.Gln167His
XR_936510.1:n.763G>T
XR_936511.1:n.763G>T
XR_936512.1:n.638G>T
XM_011528653.2:c.627G>T	XP_011526955.1:p.Gln209His
XM_011528654.2:c.501G>T	XP_011526956.1:p.Gln167His
XR_936510.2:n.774G>T
XR_936511.2:n.774G>T
XR_936512.2:n.650G>T
NM_001207055.2:c.465G>T	NP_001193984.1:p.Gln155His
NM_001207056.2:c.363G>T	NP_001193985.1:p.Gln121His
NM_006892.4:c.591G>T MANE Select	NP_008823.1:p.Gln197His
NM_175848.2:c.591G>T	NP_787044.1:p.Gln197His
NM_175849.2:c.591G>T	NP_787045.1:p.Gln197His
NM_175850.3:c.627G>T	NP_787046.1:p.Gln209His