Canonical Allele Identifier: CA118459
Gene: DNMT3B HGNC NCBI

Linked Data

ClinVar Variation Id: 6733
ClinVar RCV Id: RCV000007125
dbSNP Id: rs121908939

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32807791A>G , CM000682.2:g.32807791A>G GRCh38
NC_000020.10:g.31395597A>G , CM000682.1:g.31395597A>G GRCh37
NC_000020.9:g.30859258A>G NCBI36
NG_007290.1:g.50407A>G , LRG_56:g.50407A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696231.1:c.*1401A>G ENSP00000512497.1:n.*1401A>G
ENST00000696232.1:c.2261A>G ENSP00000512498.1:p.Asp754Gly
ENST00000696233.1:c.*1004A>G ENSP00000512499.1:n.*1004A>G
ENST00000696238.1:c.*1193A>G ENSP00000512502.1:n.*1193A>G
ENST00000696239.1:c.2231A>G ENSP00000512503.1:p.Asp744Gly
ENST00000696245.1:n.475A>G
ENST00000201963.3:c.2426A>G ENSP00000201963.3:p.Asp809Gly
ENST00000328111.6:c.2450A>G MANE Select ENSP00000328547.2:p.Asp817Gly
ENST00000348286.6:c.2201A>G ENSP00000337764.2:p.Asp734Gly
ENST00000353855.6:c.2390A>G ENSP00000313397.4:p.Asp797Gly
ENST00000443239.7:c.2075A>G ENSP00000403169.2:p.Asp692Gly
ENST00000456297.6:c.1973A>G ENSP00000412305.1:p.Asp658Gly
NM_001207055.1:c.2075A>G NP_001193984.1:p.Asp692Gly
NM_001207056.1:c.1973A>G NP_001193985.1:p.Asp658Gly
NM_006892.3:c.2450A>G , LRG_56t1:c.2450A>G NP_008823.1:p.Asp817Gly
NM_175848.1:c.2390A>G NP_787044.1:p.Asp797Gly
NM_175849.1:c.2201A>G NP_787045.1:p.Asp734Gly
NM_175850.2:c.2426A>G NP_787046.1:p.Asp809Gly
XM_011528653.1:c.2237A>G XP_011526955.1:p.Asp746Gly
XM_011528654.1:c.2111A>G XP_011526956.1:p.Asp704Gly
XR_936511.1:n.2228A>G
XM_011528653.2:c.2237A>G XP_011526955.1:p.Asp746Gly
XM_011528654.2:c.2111A>G XP_011526956.1:p.Asp704Gly
XR_936511.2:n.2239A>G
NM_001207055.2:c.2075A>G NP_001193984.1:p.Asp692Gly
NM_001207056.2:c.1973A>G NP_001193985.1:p.Asp658Gly
NM_006892.4:c.2450A>G MANE Select NP_008823.1:p.Asp817Gly
NM_175848.2:c.2390A>G NP_787044.1:p.Asp797Gly
NM_175849.2:c.2201A>G NP_787045.1:p.Asp734Gly
NM_175850.3:c.2426A>G NP_787046.1:p.Asp809Gly