Canonical Allele Identifier: CA9810839
Gene: DNMT3B HGNC NCBI

Linked Data

ClinVar Variation Id: 6735
ClinVar RCV Id: RCV002227999
dbSNP Id: rs121908941

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32802416T>G , CM000682.2:g.32802416T>G GRCh38
NC_000020.10:g.31390222T>G , CM000682.1:g.31390222T>G GRCh37
NC_000020.9:g.30853883T>G NCBI36
NG_007290.1:g.45032T>G , LRG_56:g.45032T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696231.1:c.*1128T>G ENSP00000512497.1:n.*1128T>G
ENST00000696232.1:c.2177T>G ENSP00000512498.1:p.Val726Gly
ENST00000696233.1:c.*920T>G ENSP00000512499.1:n.*920T>G
ENST00000696238.1:c.*920T>G ENSP00000512502.1:n.*920T>G
ENST00000696239.1:c.1958T>G ENSP00000512503.1:p.Val653Gly
ENST00000696245.1:n.272T>G
ENST00000201963.3:c.2153T>G ENSP00000201963.3:p.Val718Gly
ENST00000328111.6:c.2177T>G MANE Select ENSP00000328547.2:p.Val726Gly
ENST00000348286.6:c.2117T>G ENSP00000337764.2:p.Val706Gly
ENST00000353855.6:c.2117T>G ENSP00000313397.4:p.Val706Gly
ENST00000443239.7:c.1991T>G ENSP00000403169.2:p.Val664Gly
ENST00000456297.6:c.1889T>G ENSP00000412305.1:p.Val630Gly
NM_001207055.1:c.1991T>G NP_001193984.1:p.Val664Gly
NM_001207056.1:c.1889T>G NP_001193985.1:p.Val630Gly
NM_006892.3:c.2177T>G , LRG_56t1:c.2177T>G NP_008823.1:p.Val726Gly
NM_175848.1:c.2117T>G NP_787044.1:p.Val706Gly
NM_175849.1:c.2117T>G NP_787045.1:p.Val706Gly
NM_175850.2:c.2153T>G NP_787046.1:p.Val718Gly
XM_011528653.1:c.2153T>G XP_011526955.1:p.Val718Gly
XM_011528654.1:c.2027T>G XP_011526956.1:p.Val676Gly
XR_936510.1:n.2144T>G
XR_936511.1:n.2144T>G
XR_936512.1:n.2019T>G
XM_011528653.2:c.2153T>G XP_011526955.1:p.Val718Gly
XM_011528654.2:c.2027T>G XP_011526956.1:p.Val676Gly
XR_936510.2:n.2155T>G
XR_936511.2:n.2155T>G
XR_936512.2:n.2031T>G
NM_001207055.2:c.1991T>G NP_001193984.1:p.Val664Gly
NM_001207056.2:c.1889T>G NP_001193985.1:p.Val630Gly
NM_006892.4:c.2177T>G MANE Select NP_008823.1:p.Val726Gly
NM_175848.2:c.2117T>G NP_787044.1:p.Val706Gly
NM_175849.2:c.2117T>G NP_787045.1:p.Val706Gly
NM_175850.3:c.2153T>G NP_787046.1:p.Val718Gly