Canonical Allele Identifier: CA408588489
Gene: DNMT3B HGNC NCBI

Linked Data

ClinVar Variation Id: 845008
ClinVar RCV Id: RCV001047986
dbSNP Id: rs1048134602

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32800261A>G , CM000682.2:g.32800261A>G GRCh38
NC_000020.10:g.31388067A>G , CM000682.1:g.31388067A>G GRCh37
NC_000020.9:g.30851728A>G NCBI36
NG_007290.1:g.42877A>G , LRG_56:g.42877A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696231.1:c.*819A>G ENSP00000512497.1:n.*819A>G
ENST00000696232.1:c.1868A>G ENSP00000512498.1:p.Lys623Arg
ENST00000696233.1:c.*611A>G ENSP00000512499.1:n.*611A>G
ENST00000696235.1:c.*516A>G ENSP00000512500.1:n.*516A>G
ENST00000696238.1:c.*611A>G ENSP00000512502.1:n.*611A>G
ENST00000696239.1:c.1649A>G ENSP00000512503.1:p.Lys550Arg
ENST00000201963.3:c.1844A>G ENSP00000201963.3:p.Lys615Arg
ENST00000328111.6:c.1868A>G MANE Select ENSP00000328547.2:p.Lys623Arg
ENST00000348286.6:c.1808A>G ENSP00000337764.2:p.Lys603Arg
ENST00000353855.6:c.1808A>G ENSP00000313397.4:p.Lys603Arg
ENST00000443239.7:c.1682A>G ENSP00000403169.2:p.Lys561Arg
ENST00000456297.6:c.1580A>G ENSP00000412305.1:p.Lys527Arg
NM_001207055.1:c.1682A>G NP_001193984.1:p.Lys561Arg
NM_001207056.1:c.1580A>G NP_001193985.1:p.Lys527Arg
NM_006892.3:c.1868A>G , LRG_56t1:c.1868A>G NP_008823.1:p.Lys623Arg
NM_175848.1:c.1808A>G NP_787044.1:p.Lys603Arg
NM_175849.1:c.1808A>G NP_787045.1:p.Lys603Arg
NM_175850.2:c.1844A>G NP_787046.1:p.Lys615Arg
XM_011528653.1:c.1844A>G XP_011526955.1:p.Lys615Arg
XM_011528654.1:c.1718A>G XP_011526956.1:p.Lys573Arg
XR_936510.1:n.1835A>G
XR_936511.1:n.1835A>G
XR_936512.1:n.1710A>G
XM_011528653.2:c.1844A>G XP_011526955.1:p.Lys615Arg
XM_011528654.2:c.1718A>G XP_011526956.1:p.Lys573Arg
XR_936510.2:n.1846A>G
XR_936511.2:n.1846A>G
XR_936512.2:n.1722A>G
NM_001207055.2:c.1682A>G NP_001193984.1:p.Lys561Arg
NM_001207056.2:c.1580A>G NP_001193985.1:p.Lys527Arg
NM_006892.4:c.1868A>G MANE Select NP_008823.1:p.Lys623Arg
NM_175848.2:c.1808A>G NP_787044.1:p.Lys603Arg
NM_175849.2:c.1808A>G NP_787045.1:p.Lys603Arg
NM_175850.3:c.1844A>G NP_787046.1:p.Lys615Arg