Canonical Allele Identifier: CA118461

Gene: DNMT3B

Linked Data

• ClinVar Variation Id: 6734
• ClinVar RCV Id: RCV002512865
• dbSNP Id: rs121908940
• ExAC: 20:31395599 G / A
• gnomAD v2: 20-31395599-G-A
• gnomAD v3: 20-32807793-G-A
• gnomAD v4: 20-32807793-G-A
• COSMIC: COSM3545317 ; COSM3545318
• MyVariant Identifiers: chr20:g.31395599G>A (hg19) ; chr20:g.32807793G>A (hg38)
• PubMed: PMID:10647011

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32807793G>A , CM000682.2:g.32807793G>A	GRCh38
NC_000020.10:g.31395599G>A , CM000682.1:g.31395599G>A	GRCh37
NC_000020.9:g.30859260G>A	NCBI36
NG_007290.1:g.50409G>A , LRG_56:g.50409G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696231.1:c.*1403G>A	ENSP00000512497.1:n.*1403G>A
ENST00000696232.1:c.2263G>A	ENSP00000512498.1:p.Val755Met
ENST00000696233.1:c.*1006G>A	ENSP00000512499.1:n.*1006G>A
ENST00000696238.1:c.*1195G>A	ENSP00000512502.1:n.*1195G>A
ENST00000696239.1:c.2233G>A	ENSP00000512503.1:p.Val745Met
ENST00000696245.1:n.477G>A
ENST00000201963.3:c.2428G>A	ENSP00000201963.3:p.Val810Met
ENST00000328111.6:c.2452G>A MANE Select	ENSP00000328547.2:p.Val818Met
ENST00000348286.6:c.2203G>A	ENSP00000337764.2:p.Val735Met
ENST00000353855.6:c.2392G>A	ENSP00000313397.4:p.Val798Met
ENST00000443239.7:c.2077G>A	ENSP00000403169.2:p.Val693Met
ENST00000456297.6:c.1975G>A	ENSP00000412305.1:p.Val659Met
NM_001207055.1:c.2077G>A	NP_001193984.1:p.Val693Met
NM_001207056.1:c.1975G>A	NP_001193985.1:p.Val659Met
NM_006892.3:c.2452G>A , LRG_56t1:c.2452G>A	NP_008823.1:p.Val818Met
NM_175848.1:c.2392G>A	NP_787044.1:p.Val798Met
NM_175849.1:c.2203G>A	NP_787045.1:p.Val735Met
NM_175850.2:c.2428G>A	NP_787046.1:p.Val810Met
XM_011528653.1:c.2239G>A	XP_011526955.1:p.Val747Met
XM_011528654.1:c.2113G>A	XP_011526956.1:p.Val705Met
XR_936511.1:n.2230G>A
XM_011528653.2:c.2239G>A	XP_011526955.1:p.Val747Met
XM_011528654.2:c.2113G>A	XP_011526956.1:p.Val705Met
XR_936511.2:n.2241G>A
NM_001207055.2:c.2077G>A	NP_001193984.1:p.Val693Met
NM_001207056.2:c.1975G>A	NP_001193985.1:p.Val659Met
NM_006892.4:c.2452G>A MANE Select	NP_008823.1:p.Val818Met
NM_175848.2:c.2392G>A	NP_787044.1:p.Val798Met
NM_175849.2:c.2203G>A	NP_787045.1:p.Val735Met
NM_175850.3:c.2428G>A	NP_787046.1:p.Val810Met