Canonical Allele Identifier: CA118469
Gene: DNMT3B HGNC NCBI

Linked Data

ClinVar Variation Id: 6742
ClinVar RCV Id: RCV000007134
dbSNP Id: rs121908944

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32805343T>G , CM000682.2:g.32805343T>G GRCh38
NC_000020.10:g.31393149T>G , CM000682.1:g.31393149T>G GRCh37
NC_000020.9:g.30856810T>G NCBI36
NG_007290.1:g.47959T>G , LRG_56:g.47959T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696231.1:c.*1188T>G ENSP00000512497.1:n.*1188T>G
ENST00000696232.1:c.2232-2419T>G ENSP00000512498.1:n.2232-2419T>G
ENST00000696233.1:c.*975-2419T>G ENSP00000512499.1:n.*975-2419T>G
ENST00000696238.1:c.*980T>G ENSP00000512502.1:n.*980T>G
ENST00000696239.1:c.2018T>G ENSP00000512503.1:p.Val673Gly
ENST00000696245.1:n.327-866T>G
ENST00000201963.3:c.2213T>G ENSP00000201963.3:p.Val738Gly
ENST00000328111.6:c.2237T>G MANE Select ENSP00000328547.2:p.Val746Gly
ENST00000348286.6:c.2172-2419T>G ENSP00000337764.2:n.2172-2419T>G
ENST00000353855.6:c.2177T>G ENSP00000313397.4:p.Val726Gly
ENST00000443239.7:c.2046-2419T>G ENSP00000403169.2:n.2046-2419T>G
ENST00000456297.6:c.1944-2419T>G ENSP00000412305.1:n.1944-2419T>G
NM_001207055.1:c.2046-2419T>G NP_001193984.1:n.2046-2419T>G
NM_001207056.1:c.1944-2419T>G NP_001193985.1:n.1944-2419T>G
NM_006892.3:c.2237T>G , LRG_56t1:c.2237T>G NP_008823.1:p.Val746Gly
NM_175848.1:c.2177T>G NP_787044.1:p.Val726Gly
NM_175849.1:c.2172-2419T>G NP_787045.1:n.2172-2419T>G
NM_175850.2:c.2213T>G NP_787046.1:p.Val738Gly
XM_011528653.1:c.2208-2419T>G XP_011526955.1:n.2208-2419T>G
XM_011528654.1:c.2082-2419T>G XP_011526956.1:n.2082-2419T>G
XR_936510.1:n.2204T>G
XR_936511.1:n.2199-2419T>G
XR_936512.1:n.2079T>G
XM_011528653.2:c.2208-2419T>G XP_011526955.1:n.2208-2419T>G
XM_011528654.2:c.2082-2419T>G XP_011526956.1:n.2082-2419T>G
XR_936510.2:n.2215T>G
XR_936511.2:n.2210-2419T>G
XR_936512.2:n.2091T>G
NM_001207055.2:c.2046-2419T>G NP_001193984.1:n.2046-2419T>G
NM_001207056.2:c.1944-2419T>G NP_001193985.1:n.1944-2419T>G
NM_006892.4:c.2237T>G MANE Select NP_008823.1:p.Val746Gly
NM_175848.2:c.2177T>G NP_787044.1:p.Val726Gly
NM_175849.2:c.2172-2419T>G NP_787045.1:n.2172-2419T>G
NM_175850.3:c.2213T>G NP_787046.1:p.Val738Gly