Canonical Allele Identifier: CA313185210
Gene: DNMT3B HGNC NCBI

Linked Data

ClinVar Variation Id: 1059799
ClinVar RCV Id: RCV001369155
dbSNP Id: rs774622592

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32787357C>G , CM000682.2:g.32787357C>G GRCh38
NC_000020.10:g.31375163C>G , CM000682.1:g.31375163C>G GRCh37
NC_000020.9:g.30838824C>G NCBI36
NG_007290.1:g.29973C>G , LRG_56:g.29973C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696231.1:c.560C>G ENSP00000512497.1:p.Pro187Arg
ENST00000696232.1:c.560C>G ENSP00000512498.1:p.Pro187Arg
ENST00000696233.1:c.560C>G ENSP00000512499.1:p.Pro187Arg
ENST00000696234.1:n.544C>G
ENST00000696235.1:c.434C>G ENSP00000512500.1:p.Pro145Arg
ENST00000696236.1:c.434C>G ENSP00000512501.1:p.Pro145Arg
ENST00000696237.1:n.666C>G
ENST00000696238.1:c.560C>G ENSP00000512502.1:p.Pro187Arg
ENST00000696239.1:c.560C>G ENSP00000512503.1:p.Pro187Arg
ENST00000201963.3:c.596C>G ENSP00000201963.3:p.Pro199Arg
ENST00000328111.6:c.560C>G MANE Select ENSP00000328547.2:p.Pro187Arg
ENST00000348286.6:c.560C>G ENSP00000337764.2:p.Pro187Arg
ENST00000353855.6:c.560C>G ENSP00000313397.4:p.Pro187Arg
ENST00000443239.7:c.434C>G ENSP00000403169.2:p.Pro145Arg
ENST00000456297.6:c.332C>G ENSP00000412305.1:p.Pro111Arg
NM_001207055.1:c.434C>G NP_001193984.1:p.Pro145Arg
NM_001207056.1:c.332C>G NP_001193985.1:p.Pro111Arg
NM_006892.3:c.560C>G , LRG_56t1:c.560C>G NP_008823.1:p.Pro187Arg
NM_175848.1:c.560C>G NP_787044.1:p.Pro187Arg
NM_175849.1:c.560C>G NP_787045.1:p.Pro187Arg
NM_175850.2:c.596C>G NP_787046.1:p.Pro199Arg
XM_011528653.1:c.596C>G XP_011526955.1:p.Pro199Arg
XM_011528654.1:c.470C>G XP_011526956.1:p.Pro157Arg
XR_936510.1:n.732C>G
XR_936511.1:n.732C>G
XR_936512.1:n.607C>G
XM_011528653.2:c.596C>G XP_011526955.1:p.Pro199Arg
XM_011528654.2:c.470C>G XP_011526956.1:p.Pro157Arg
XR_936510.2:n.743C>G
XR_936511.2:n.743C>G
XR_936512.2:n.619C>G
NM_001207055.2:c.434C>G NP_001193984.1:p.Pro145Arg
NM_001207056.2:c.332C>G NP_001193985.1:p.Pro111Arg
NM_006892.4:c.560C>G MANE Select NP_008823.1:p.Pro187Arg
NM_175848.2:c.560C>G NP_787044.1:p.Pro187Arg
NM_175849.2:c.560C>G NP_787045.1:p.Pro187Arg
NM_175850.3:c.596C>G NP_787046.1:p.Pro199Arg