Canonical Allele Identifier: CA10653069

Gene: DNMT3B

Linked Data

• ClinVar Variation Id: 338189
• ClinVar RCV Id: RCV000405844
• dbSNP Id: rs886056620
• gnomAD v2: 20-31395892-C-T
• gnomAD v3: 20-32808086-C-T
• gnomAD v4: 20-32808086-C-T
• MyVariant Identifiers: chr20:g.31395892C>T (hg19) ; chr20:g.32808086C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32808086C>T , CM000682.2:g.32808086C>T	GRCh38
NC_000020.10:g.31395892C>T , CM000682.1:g.31395892C>T	GRCh37
NC_000020.9:g.30859553C>T	NCBI36
NG_007290.1:g.50702C>T , LRG_56:g.50702C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.*1696C>T	ENSP00000512497.1:n.*1696C>T
ENST00000696232.1:c.*183C>T	ENSP00000512498.1:n.*183C>T
ENST00000696233.1:c.*1299C>T	ENSP00000512499.1:n.*1299C>T
ENST00000696238.1:c.*1488C>T	ENSP00000512502.1:n.*1488C>T
ENST00000696245.1:n.770C>T
ENST00000201963.3:c.*183C>T	ENSP00000201963.3:n.*183C>T
ENST00000328111.6:c.*183C>T MANE Select	ENSP00000328547.2:n.*183C>T
ENST00000348286.6:c.*183C>T	ENSP00000337764.2:n.*183C>T
ENST00000353855.6:c.*183C>T	ENSP00000313397.4:n.*183C>T
ENST00000443239.7:c.*183C>T	ENSP00000403169.2:n.*183C>T
NM_001207055.1:c.*183C>T	NP_001193984.1:n.*183C>T
NM_001207056.1:c.*183C>T	NP_001193985.1:n.*183C>T
NM_006892.3:c.*183C>T , LRG_56t1:c.*183C>T	NP_008823.1:n.*183C>T
NM_175848.1:c.*183C>T	NP_787044.1:n.*183C>T
NM_175849.1:c.*183C>T	NP_787045.1:n.*183C>T
NM_175850.2:c.*183C>T	NP_787046.1:n.*183C>T
XM_011528653.1:c.*183C>T	XP_011526955.1:n.*183C>T
XM_011528654.1:c.*183C>T	XP_011526956.1:n.*183C>T
XR_936511.1:n.2523C>T
XM_011528653.2:c.*183C>T	XP_011526955.1:n.*183C>T
XM_011528654.2:c.*183C>T	XP_011526956.1:n.*183C>T
XR_936511.2:n.2534C>T
NM_001207055.2:c.*183C>T	NP_001193984.1:n.*183C>T
NM_001207056.2:c.*183C>T	NP_001193985.1:n.*183C>T
NM_006892.4:c.*183C>T MANE Select	NP_008823.1:n.*183C>T
NM_175848.2:c.*183C>T	NP_787044.1:n.*183C>T
NM_175849.2:c.*183C>T	NP_787045.1:n.*183C>T
NM_175850.3:c.*183C>T	NP_787046.1:n.*183C>T