Canonical Allele Identifier: CA10649605

Gene: DNMT3B

Linked Data

• ClinVar Variation Id: 338203
• ClinVar RCV Id: RCV000383580
• dbSNP Id: rs532308734
• gnomAD v2: 20-31397045-G-A
• gnomAD v3: 20-32809239-G-A
• gnomAD v4: 20-32809239-G-A
• COSMIC: COSN24489005
• MyVariant Identifiers: chr20:g.31397045G>A (hg19) ; chr20:g.32809239G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32809239G>A , CM000682.2:g.32809239G>A	GRCh38
NC_000020.10:g.31397045G>A , CM000682.1:g.31397045G>A	GRCh37
NC_000020.9:g.30860706G>A	NCBI36
NG_007290.1:g.51855G>A , LRG_56:g.51855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.*2849G>A	ENSP00000512497.1:n.*2849G>A
ENST00000696232.1:c.*1336G>A	ENSP00000512498.1:n.*1336G>A
ENST00000696233.1:c.*2452G>A	ENSP00000512499.1:n.*2452G>A
ENST00000696238.1:c.*2641G>A	ENSP00000512502.1:n.*2641G>A
ENST00000696245.1:n.1923G>A
ENST00000201963.3:c.*1336G>A	ENSP00000201963.3:n.*1336G>A
ENST00000328111.6:c.*1336G>A MANE Select	ENSP00000328547.2:n.*1336G>A
ENST00000348286.6:c.*1336G>A	ENSP00000337764.2:n.*1336G>A
ENST00000353855.6:c.*1336G>A	ENSP00000313397.4:n.*1336G>A
NM_001207055.1:c.*1336G>A	NP_001193984.1:n.*1336G>A
NM_001207056.1:c.*1336G>A	NP_001193985.1:n.*1336G>A
NM_006892.3:c.*1336G>A , LRG_56t1:c.*1336G>A	NP_008823.1:n.*1336G>A
NM_175848.1:c.*1336G>A	NP_787044.1:n.*1336G>A
NM_175849.1:c.*1336G>A	NP_787045.1:n.*1336G>A
NM_175850.2:c.*1336G>A	NP_787046.1:n.*1336G>A
XM_011528653.1:c.*1336G>A	XP_011526955.1:n.*1336G>A
XM_011528654.1:c.*1336G>A	XP_011526956.1:n.*1336G>A
XR_936511.1:n.3676G>A
XM_011528653.2:c.*1336G>A	XP_011526955.1:n.*1336G>A
XM_011528654.2:c.*1336G>A	XP_011526956.1:n.*1336G>A
XR_936511.2:n.3687G>A
NM_001207055.2:c.*1336G>A	NP_001193984.1:n.*1336G>A
NM_001207056.2:c.*1336G>A	NP_001193985.1:n.*1336G>A
NM_006892.4:c.*1336G>A MANE Select	NP_008823.1:n.*1336G>A
NM_175848.2:c.*1336G>A	NP_787044.1:n.*1336G>A
NM_175849.2:c.*1336G>A	NP_787045.1:n.*1336G>A
NM_175850.3:c.*1336G>A	NP_787046.1:n.*1336G>A