Canonical Allele Identifier: CA10643766

Gene: DNMT3B

Linked Data

• ClinVar Variation Id: 338184
• ClinVar RCV Id: RCV000296781
• dbSNP Id: rs886056617
• MyVariant Identifiers: chr20:g.31394024G>A (hg19) ; chr20:g.32806218G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32806218G>A , CM000682.2:g.32806218G>A	GRCh38
NC_000020.10:g.31394024G>A , CM000682.1:g.31394024G>A	GRCh37
NC_000020.9:g.30857685G>A	NCBI36
NG_007290.1:g.48834G>A , LRG_56:g.48834G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.*1262G>A	ENSP00000512497.1:n.*1262G>A
ENST00000696232.1:c.2232-1544G>A	ENSP00000512498.1:n.2232-1544G>A
ENST00000696233.1:c.*975-1544G>A	ENSP00000512499.1:n.*975-1544G>A
ENST00000696238.1:c.*1054G>A	ENSP00000512502.1:n.*1054G>A
ENST00000696239.1:c.2092G>A	ENSP00000512503.1:p.Val698Ile
ENST00000696245.1:n.336G>A
ENST00000201963.3:c.2287G>A	ENSP00000201963.3:p.Val763Ile
ENST00000328111.6:c.2311G>A MANE Select	ENSP00000328547.2:p.Val771Ile
ENST00000348286.6:c.2172-1544G>A	ENSP00000337764.2:n.2172-1544G>A
ENST00000353855.6:c.2251G>A	ENSP00000313397.4:p.Val751Ile
ENST00000443239.7:c.2046-1544G>A	ENSP00000403169.2:n.2046-1544G>A
ENST00000456297.6:c.1944-1544G>A	ENSP00000412305.1:n.1944-1544G>A
NM_001207055.1:c.2046-1544G>A	NP_001193984.1:n.2046-1544G>A
NM_001207056.1:c.1944-1544G>A	NP_001193985.1:n.1944-1544G>A
NM_006892.3:c.2311G>A , LRG_56t1:c.2311G>A	NP_008823.1:p.Val771Ile
NM_175848.1:c.2251G>A	NP_787044.1:p.Val751Ile
NM_175849.1:c.2172-1544G>A	NP_787045.1:n.2172-1544G>A
NM_175850.2:c.2287G>A	NP_787046.1:p.Val763Ile
XM_011528653.1:c.2208-1544G>A	XP_011526955.1:n.2208-1544G>A
XM_011528654.1:c.2082-1544G>A	XP_011526956.1:n.2082-1544G>A
XR_936510.1:n.2278G>A
XR_936511.1:n.2199-1544G>A
XR_936512.1:n.2153G>A
XM_011528653.2:c.2208-1544G>A	XP_011526955.1:n.2208-1544G>A
XM_011528654.2:c.2082-1544G>A	XP_011526956.1:n.2082-1544G>A
XR_936510.2:n.2289G>A
XR_936511.2:n.2210-1544G>A
XR_936512.2:n.2165G>A
NM_001207055.2:c.2046-1544G>A	NP_001193984.1:n.2046-1544G>A
NM_001207056.2:c.1944-1544G>A	NP_001193985.1:n.1944-1544G>A
NM_006892.4:c.2311G>A MANE Select	NP_008823.1:p.Val771Ile
NM_175848.2:c.2251G>A	NP_787044.1:p.Val751Ile
NM_175849.2:c.2172-1544G>A	NP_787045.1:n.2172-1544G>A
NM_175850.3:c.2287G>A	NP_787046.1:p.Val763Ile