Canonical Allele Identifier: CA10652468

Gene: DNMT3B

Linked Data

• ClinVar Variation Id: 338188
• ClinVar RCV Id: RCV000348099
• dbSNP Id: rs563626929
• gnomAD v2: 20-31395822-G-A
• gnomAD v3: 20-32808016-G-A
• gnomAD v4: 20-32808016-G-A
• MyVariant Identifiers: chr20:g.31395822G>A (hg19) ; chr20:g.32808016G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32808016G>A , CM000682.2:g.32808016G>A	GRCh38
NC_000020.10:g.31395822G>A , CM000682.1:g.31395822G>A	GRCh37
NC_000020.9:g.30859483G>A	NCBI36
NG_007290.1:g.50632G>A , LRG_56:g.50632G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.*1626G>A	ENSP00000512497.1:n.*1626G>A
ENST00000696232.1:c.*113G>A	ENSP00000512498.1:n.*113G>A
ENST00000696233.1:c.*1229G>A	ENSP00000512499.1:n.*1229G>A
ENST00000696238.1:c.*1418G>A	ENSP00000512502.1:n.*1418G>A
ENST00000696245.1:n.700G>A
ENST00000201963.3:c.*113G>A	ENSP00000201963.3:n.*113G>A
ENST00000328111.6:c.*113G>A MANE Select	ENSP00000328547.2:n.*113G>A
ENST00000348286.6:c.*113G>A	ENSP00000337764.2:n.*113G>A
ENST00000353855.6:c.*113G>A	ENSP00000313397.4:n.*113G>A
ENST00000443239.7:c.*113G>A	ENSP00000403169.2:n.*113G>A
ENST00000456297.6:c.*113G>A	ENSP00000412305.1:n.*113G>A
NM_001207055.1:c.*113G>A	NP_001193984.1:n.*113G>A
NM_001207056.1:c.*113G>A	NP_001193985.1:n.*113G>A
NM_006892.3:c.*113G>A , LRG_56t1:c.*113G>A	NP_008823.1:n.*113G>A
NM_175848.1:c.*113G>A	NP_787044.1:n.*113G>A
NM_175849.1:c.*113G>A	NP_787045.1:n.*113G>A
NM_175850.2:c.*113G>A	NP_787046.1:n.*113G>A
XM_011528653.1:c.*113G>A	XP_011526955.1:n.*113G>A
XM_011528654.1:c.*113G>A	XP_011526956.1:n.*113G>A
XR_936511.1:n.2453G>A
XM_011528653.2:c.*113G>A	XP_011526955.1:n.*113G>A
XM_011528654.2:c.*113G>A	XP_011526956.1:n.*113G>A
XR_936511.2:n.2464G>A
NM_001207055.2:c.*113G>A	NP_001193984.1:n.*113G>A
NM_001207056.2:c.*113G>A	NP_001193985.1:n.*113G>A
NM_006892.4:c.*113G>A MANE Select	NP_008823.1:n.*113G>A
NM_175848.2:c.*113G>A	NP_787044.1:n.*113G>A
NM_175849.2:c.*113G>A	NP_787045.1:n.*113G>A
NM_175850.3:c.*113G>A	NP_787046.1:n.*113G>A