Canonical Allele Identifier: CA9810869

Gene: DNMT3B

Linked Data

• ClinVar Variation Id: 766573
• ClinVar RCV Id: RCV001472888
• dbSNP Id: rs776420118
• ExAC: 20:31393147 C / T
• gnomAD v2: 20-31393147-C-T
• gnomAD v3: 20-32805341-C-T
• gnomAD v4: 20-32805341-C-T
• COSMIC: COSM6225478 ; COSM6225479
• MyVariant Identifiers: chr20:g.31393147C>T (hg19) ; chr20:g.32805341C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32805341C>T , CM000682.2:g.32805341C>T	GRCh38
NC_000020.10:g.31393147C>T , CM000682.1:g.31393147C>T	GRCh37
NC_000020.9:g.30856808C>T	NCBI36
NG_007290.1:g.47957C>T , LRG_56:g.47957C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.*1186C>T	ENSP00000512497.1:n.*1186C>T
ENST00000696232.1:c.2232-2421C>T	ENSP00000512498.1:n.2232-2421C>T
ENST00000696233.1:c.*975-2421C>T	ENSP00000512499.1:n.*975-2421C>T
ENST00000696238.1:c.*978C>T	ENSP00000512502.1:n.*978C>T
ENST00000696239.1:c.2016C>T	ENSP00000512503.1:p.Pro672=
ENST00000696245.1:n.327-868C>T
ENST00000201963.3:c.2211C>T	ENSP00000201963.3:p.Pro737=
ENST00000328111.6:c.2235C>T MANE Select	ENSP00000328547.2:p.Pro745=
ENST00000348286.6:c.2172-2421C>T	ENSP00000337764.2:n.2172-2421C>T
ENST00000353855.6:c.2175C>T	ENSP00000313397.4:p.Pro725=
ENST00000443239.7:c.2046-2421C>T	ENSP00000403169.2:n.2046-2421C>T
ENST00000456297.6:c.1944-2421C>T	ENSP00000412305.1:n.1944-2421C>T
NM_001207055.1:c.2046-2421C>T	NP_001193984.1:n.2046-2421C>T
NM_001207056.1:c.1944-2421C>T	NP_001193985.1:n.1944-2421C>T
NM_006892.3:c.2235C>T , LRG_56t1:c.2235C>T	NP_008823.1:p.Pro745=
NM_175848.1:c.2175C>T	NP_787044.1:p.Pro725=
NM_175849.1:c.2172-2421C>T	NP_787045.1:n.2172-2421C>T
NM_175850.2:c.2211C>T	NP_787046.1:p.Pro737=
XM_011528653.1:c.2208-2421C>T	XP_011526955.1:n.2208-2421C>T
XM_011528654.1:c.2082-2421C>T	XP_011526956.1:n.2082-2421C>T
XR_936510.1:n.2202C>T
XR_936511.1:n.2199-2421C>T
XR_936512.1:n.2077C>T
XM_011528653.2:c.2208-2421C>T	XP_011526955.1:n.2208-2421C>T
XM_011528654.2:c.2082-2421C>T	XP_011526956.1:n.2082-2421C>T
XR_936510.2:n.2213C>T
XR_936511.2:n.2210-2421C>T
XR_936512.2:n.2089C>T
NM_001207055.2:c.2046-2421C>T	NP_001193984.1:n.2046-2421C>T
NM_001207056.2:c.1944-2421C>T	NP_001193985.1:n.1944-2421C>T
NM_006892.4:c.2235C>T MANE Select	NP_008823.1:p.Pro745=
NM_175848.2:c.2175C>T	NP_787044.1:p.Pro725=
NM_175849.2:c.2172-2421C>T	NP_787045.1:n.2172-2421C>T
NM_175850.3:c.2211C>T	NP_787046.1:p.Pro737=