Canonical Allele Identifier: CA510469072
Gene: DNMT3B HGNC NCBI

Linked Data

ClinVar Variation Id: 2826476
ClinVar RCV Id: RCV003761095
MyVariant Identifiers: chr20:g.31375131C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32787325C>T , CM000682.2:g.32787325C>T GRCh38
NC_000020.10:g.31375131C>T , CM000682.1:g.31375131C>T GRCh37
NC_000020.9:g.30838792C>T NCBI36
NG_007290.1:g.29941C>T , LRG_56:g.29941C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696231.1:c.528C>T ENSP00000512497.1:p.Asp176=
ENST00000696232.1:c.528C>T ENSP00000512498.1:p.Asp176=
ENST00000696233.1:c.528C>T ENSP00000512499.1:p.Asp176=
ENST00000696234.1:n.512C>T
ENST00000696235.1:c.402C>T ENSP00000512500.1:p.Asp134=
ENST00000696236.1:c.402C>T ENSP00000512501.1:p.Asp134=
ENST00000696237.1:n.634C>T
ENST00000696238.1:c.528C>T ENSP00000512502.1:p.Asp176=
ENST00000696239.1:c.528C>T ENSP00000512503.1:p.Asp176=
ENST00000201963.3:c.564C>T ENSP00000201963.3:p.Asp188=
ENST00000328111.6:c.528C>T MANE Select ENSP00000328547.2:p.Asp176=
ENST00000348286.6:c.528C>T ENSP00000337764.2:p.Asp176=
ENST00000353855.6:c.528C>T ENSP00000313397.4:p.Asp176=
ENST00000443239.7:c.402C>T ENSP00000403169.2:p.Asp134=
ENST00000456297.6:c.300C>T ENSP00000412305.1:p.Asp100=
NM_001207055.1:c.402C>T NP_001193984.1:p.Asp134=
NM_001207056.1:c.300C>T NP_001193985.1:p.Asp100=
NM_006892.3:c.528C>T , LRG_56t1:c.528C>T NP_008823.1:p.Asp176=
NM_175848.1:c.528C>T NP_787044.1:p.Asp176=
NM_175849.1:c.528C>T NP_787045.1:p.Asp176=
NM_175850.2:c.564C>T NP_787046.1:p.Asp188=
XM_011528653.1:c.564C>T XP_011526955.1:p.Asp188=
XM_011528654.1:c.438C>T XP_011526956.1:p.Asp146=
XR_936510.1:n.700C>T
XR_936511.1:n.700C>T
XR_936512.1:n.575C>T
XM_011528653.2:c.564C>T XP_011526955.1:p.Asp188=
XM_011528654.2:c.438C>T XP_011526956.1:p.Asp146=
XR_936510.2:n.711C>T
XR_936511.2:n.711C>T
XR_936512.2:n.587C>T
NM_001207055.2:c.402C>T NP_001193984.1:p.Asp134=
NM_001207056.2:c.300C>T NP_001193985.1:p.Asp100=
NM_006892.4:c.528C>T MANE Select NP_008823.1:p.Asp176=
NM_175848.2:c.528C>T NP_787044.1:p.Asp176=
NM_175849.2:c.528C>T NP_787045.1:p.Asp176=
NM_175850.3:c.564C>T NP_787046.1:p.Asp188=