Canonical Allele Identifier: CA510214660

Gene: DNMT3B

Linked Data

• dbSNP Id: rs1433818570
• gnomAD v2: 20-31395697-T-C
• gnomAD v4: 20-32807891-T-C
• MyVariant Identifiers: chr20:g.31395697T>C (hg19) ; chr20:g.32807891T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32807891T>C , CM000682.2:g.32807891T>C	GRCh38
NC_000020.10:g.31395697T>C , CM000682.1:g.31395697T>C	GRCh37
NC_000020.9:g.30859358T>C	NCBI36
NG_007290.1:g.50507T>C , LRG_56:g.50507T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.*1501T>C	ENSP00000512497.1:n.*1501T>C
ENST00000696232.1:c.2361T>C	ENSP00000512498.1:p.Phe787=
ENST00000696233.1:c.*1104T>C	ENSP00000512499.1:n.*1104T>C
ENST00000696238.1:c.*1293T>C	ENSP00000512502.1:n.*1293T>C
ENST00000696239.1:c.2331T>C	ENSP00000512503.1:p.Phe777=
ENST00000696245.1:n.575T>C
ENST00000201963.3:c.2526T>C	ENSP00000201963.3:p.Phe842=
ENST00000328111.6:c.2550T>C MANE Select	ENSP00000328547.2:p.Phe850=
ENST00000348286.6:c.2301T>C	ENSP00000337764.2:p.Phe767=
ENST00000353855.6:c.2490T>C	ENSP00000313397.4:p.Phe830=
ENST00000443239.7:c.2175T>C	ENSP00000403169.2:p.Phe725=
ENST00000456297.6:c.2073T>C	ENSP00000412305.1:p.Phe691=
NM_001207055.1:c.2175T>C	NP_001193984.1:p.Phe725=
NM_001207056.1:c.2073T>C	NP_001193985.1:p.Phe691=
NM_006892.3:c.2550T>C , LRG_56t1:c.2550T>C	NP_008823.1:p.Phe850=
NM_175848.1:c.2490T>C	NP_787044.1:p.Phe830=
NM_175849.1:c.2301T>C	NP_787045.1:p.Phe767=
NM_175850.2:c.2526T>C	NP_787046.1:p.Phe842=
XM_011528653.1:c.2337T>C	XP_011526955.1:p.Phe779=
XM_011528654.1:c.2211T>C	XP_011526956.1:p.Phe737=
XR_936511.1:n.2328T>C
XM_011528653.2:c.2337T>C	XP_011526955.1:p.Phe779=
XM_011528654.2:c.2211T>C	XP_011526956.1:p.Phe737=
XR_936511.2:n.2339T>C
NM_001207055.2:c.2175T>C	NP_001193984.1:p.Phe725=
NM_001207056.2:c.2073T>C	NP_001193985.1:p.Phe691=
NM_006892.4:c.2550T>C MANE Select	NP_008823.1:p.Phe850=
NM_175848.2:c.2490T>C	NP_787044.1:p.Phe830=
NM_175849.2:c.2301T>C	NP_787045.1:p.Phe767=
NM_175850.3:c.2526T>C	NP_787046.1:p.Phe842=