Canonical Allele Identifier: CA10649594
Gene: DNMT3B HGNC NCBI

Linked Data

ClinVar Variation Id: 338193
ClinVar RCV Id: RCV000298192
dbSNP Id: rs151015070

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32808463C>T , CM000682.2:g.32808463C>T GRCh38
NC_000020.10:g.31396269C>T , CM000682.1:g.31396269C>T GRCh37
NC_000020.9:g.30859930C>T NCBI36
NG_007290.1:g.51079C>T , LRG_56:g.51079C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696231.1:c.*2073C>T ENSP00000512497.1:n.*2073C>T
ENST00000696232.1:c.*560C>T ENSP00000512498.1:n.*560C>T
ENST00000696233.1:c.*1676C>T ENSP00000512499.1:n.*1676C>T
ENST00000696238.1:c.*1865C>T ENSP00000512502.1:n.*1865C>T
ENST00000696245.1:n.1147C>T
ENST00000201963.3:c.*560C>T ENSP00000201963.3:n.*560C>T
ENST00000328111.6:c.*560C>T MANE Select ENSP00000328547.2:n.*560C>T
ENST00000348286.6:c.*560C>T ENSP00000337764.2:n.*560C>T
ENST00000353855.6:c.*560C>T ENSP00000313397.4:n.*560C>T
NM_001207055.1:c.*560C>T NP_001193984.1:n.*560C>T
NM_001207056.1:c.*560C>T NP_001193985.1:n.*560C>T
NM_006892.3:c.*560C>T , LRG_56t1:c.*560C>T NP_008823.1:n.*560C>T
NM_175848.1:c.*560C>T NP_787044.1:n.*560C>T
NM_175849.1:c.*560C>T NP_787045.1:n.*560C>T
NM_175850.2:c.*560C>T NP_787046.1:n.*560C>T
XM_011528653.1:c.*560C>T XP_011526955.1:n.*560C>T
XM_011528654.1:c.*560C>T XP_011526956.1:n.*560C>T
XR_936511.1:n.2900C>T
XM_011528653.2:c.*560C>T XP_011526955.1:n.*560C>T
XM_011528654.2:c.*560C>T XP_011526956.1:n.*560C>T
XR_936511.2:n.2911C>T
NM_001207055.2:c.*560C>T NP_001193984.1:n.*560C>T
NM_001207056.2:c.*560C>T NP_001193985.1:n.*560C>T
NM_006892.4:c.*560C>T MANE Select NP_008823.1:n.*560C>T
NM_175848.2:c.*560C>T NP_787044.1:n.*560C>T
NM_175849.2:c.*560C>T NP_787045.1:n.*560C>T
NM_175850.3:c.*560C>T NP_787046.1:n.*560C>T