Canonical Allele Identifier: CA9810272

Gene: DNMT3B

Linked Data

• ClinVar Variation Id: 1912976
• ClinVar RCV Id: RCV002593522
• dbSNP Id: rs760734960
• ExAC: 20:31375247 C / T
• gnomAD v2: 20-31375247-C-T
• gnomAD v3: 20-32787441-C-T
• gnomAD v4: 20-32787441-C-T
• MyVariant Identifiers: chr20:g.31375247C>T (hg19) ; chr20:g.32787441C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32787441C>T , CM000682.2:g.32787441C>T	GRCh38
NC_000020.10:g.31375247C>T , CM000682.1:g.31375247C>T	GRCh37
NC_000020.9:g.30838908C>T	NCBI36
NG_007290.1:g.30057C>T , LRG_56:g.30057C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.644C>T	ENSP00000512497.1:p.Ser215Leu
ENST00000696232.1:c.644C>T	ENSP00000512498.1:p.Ser215Leu
ENST00000696233.1:c.644C>T	ENSP00000512499.1:p.Ser215Leu
ENST00000696234.1:n.628C>T
ENST00000696235.1:c.518C>T	ENSP00000512500.1:p.Ser173Leu
ENST00000696236.1:c.518C>T	ENSP00000512501.1:p.Ser173Leu
ENST00000696237.1:n.750C>T
ENST00000696238.1:c.644C>T	ENSP00000512502.1:p.Ser215Leu
ENST00000696239.1:c.644C>T	ENSP00000512503.1:p.Ser215Leu
ENST00000201963.3:c.680C>T	ENSP00000201963.3:p.Ser227Leu
ENST00000328111.6:c.644C>T MANE Select	ENSP00000328547.2:p.Ser215Leu
ENST00000348286.6:c.644C>T	ENSP00000337764.2:p.Ser215Leu
ENST00000353855.6:c.644C>T	ENSP00000313397.4:p.Ser215Leu
ENST00000443239.7:c.518C>T	ENSP00000403169.2:p.Ser173Leu
ENST00000456297.6:c.416C>T	ENSP00000412305.1:p.Ser139Leu
NM_001207055.1:c.518C>T	NP_001193984.1:p.Ser173Leu
NM_001207056.1:c.416C>T	NP_001193985.1:p.Ser139Leu
NM_006892.3:c.644C>T , LRG_56t1:c.644C>T	NP_008823.1:p.Ser215Leu
NM_175848.1:c.644C>T	NP_787044.1:p.Ser215Leu
NM_175849.1:c.644C>T	NP_787045.1:p.Ser215Leu
NM_175850.2:c.680C>T	NP_787046.1:p.Ser227Leu
XM_011528653.1:c.680C>T	XP_011526955.1:p.Ser227Leu
XM_011528654.1:c.554C>T	XP_011526956.1:p.Ser185Leu
XR_936510.1:n.816C>T
XR_936511.1:n.816C>T
XR_936512.1:n.691C>T
XM_011528653.2:c.680C>T	XP_011526955.1:p.Ser227Leu
XM_011528654.2:c.554C>T	XP_011526956.1:p.Ser185Leu
XR_936510.2:n.827C>T
XR_936511.2:n.827C>T
XR_936512.2:n.703C>T
NM_001207055.2:c.518C>T	NP_001193984.1:p.Ser173Leu
NM_001207056.2:c.416C>T	NP_001193985.1:p.Ser139Leu
NM_006892.4:c.644C>T MANE Select	NP_008823.1:p.Ser215Leu
NM_175848.2:c.644C>T	NP_787044.1:p.Ser215Leu
NM_175849.2:c.644C>T	NP_787045.1:p.Ser215Leu
NM_175850.3:c.680C>T	NP_787046.1:p.Ser227Leu