Canonical Allele Identifier: CA9810761

Gene: DNMT3B

Linked Data

• ClinVar Variation Id: 338180
• ClinVar RCV Id: RCV000356980 ; RCV000455509 ; RCV001513229 ; RCV001824747
• dbSNP Id: rs2424928
• ExAC: 20:31388636 T / C
• gnomAD v2: 20-31388636-T-C
• gnomAD v3: 20-32800830-T-C
• gnomAD v4: 20-32800830-T-C
• MyVariant Identifiers: chr20:g.31388636T>C (hg19) ; chr20:g.32800830T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32800830T>C , CM000682.2:g.32800830T>C	GRCh38
NC_000020.10:g.31388636T>C , CM000682.1:g.31388636T>C	GRCh37
NC_000020.9:g.30852297T>C	NCBI36
NG_007290.1:g.43446T>C , LRG_56:g.43446T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.*857-5T>C	ENSP00000512497.1:n.*857-5T>C
ENST00000696232.1:c.1906-5T>C	ENSP00000512498.1:n.1906-5T>C
ENST00000696233.1:c.*649-5T>C	ENSP00000512499.1:n.*649-5T>C
ENST00000696235.1:c.*554-5T>C	ENSP00000512500.1:n.*554-5T>C
ENST00000696238.1:c.*649-5T>C	ENSP00000512502.1:n.*649-5T>C
ENST00000696239.1:c.1687-5T>C	ENSP00000512503.1:n.1687-5T>C
ENST00000201963.3:c.1882-5T>C	ENSP00000201963.3:n.1882-5T>C
ENST00000328111.6:c.1906-5T>C MANE Select	ENSP00000328547.2:n.1906-5T>C
ENST00000348286.6:c.1846-5T>C	ENSP00000337764.2:n.1846-5T>C
ENST00000353855.6:c.1846-5T>C	ENSP00000313397.4:n.1846-5T>C
ENST00000443239.7:c.1720-5T>C	ENSP00000403169.2:n.1720-5T>C
ENST00000456297.6:c.1618-5T>C	ENSP00000412305.1:n.1618-5T>C
NM_001207055.1:c.1720-5T>C	NP_001193984.1:n.1720-5T>C
NM_001207056.1:c.1618-5T>C	NP_001193985.1:n.1618-5T>C
NM_006892.3:c.1906-5T>C , LRG_56t1:c.1906-5T>C	NP_008823.1:n.1906-5T>C
NM_175848.1:c.1846-5T>C	NP_787044.1:n.1846-5T>C
NM_175849.1:c.1846-5T>C	NP_787045.1:n.1846-5T>C
NM_175850.2:c.1882-5T>C	NP_787046.1:n.1882-5T>C
XM_011528653.1:c.1882-5T>C	XP_011526955.1:n.1882-5T>C
XM_011528654.1:c.1756-5T>C	XP_011526956.1:n.1756-5T>C
XR_936510.1:n.1873-5T>C
XR_936511.1:n.1873-5T>C
XR_936512.1:n.1748-5T>C
XM_011528653.2:c.1882-5T>C	XP_011526955.1:n.1882-5T>C
XM_011528654.2:c.1756-5T>C	XP_011526956.1:n.1756-5T>C
XR_936510.2:n.1884-5T>C
XR_936511.2:n.1884-5T>C
XR_936512.2:n.1760-5T>C
NM_001207055.2:c.1720-5T>C	NP_001193984.1:n.1720-5T>C
NM_001207056.2:c.1618-5T>C	NP_001193985.1:n.1618-5T>C
NM_006892.4:c.1906-5T>C MANE Select	NP_008823.1:n.1906-5T>C
NM_175848.2:c.1846-5T>C	NP_787044.1:n.1846-5T>C
NM_175849.2:c.1846-5T>C	NP_787045.1:n.1846-5T>C
NM_175850.3:c.1882-5T>C	NP_787046.1:n.1882-5T>C