Canonical Allele Identifier: CA408592100

Gene: DNMT3B

Linked Data

• ClinVar Variation Id: 853864
• ClinVar RCV Id: RCV001058769
• dbSNP Id: rs1273316071
• gnomAD v2: 20-31393155-C-T
• gnomAD v4: 20-32805349-C-T
• MyVariant Identifiers: chr20:g.31393155C>T (hg19) ; chr20:g.32805349C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32805349C>T , CM000682.2:g.32805349C>T	GRCh38
NC_000020.10:g.31393155C>T , CM000682.1:g.31393155C>T	GRCh37
NC_000020.9:g.30856816C>T	NCBI36
NG_007290.1:g.47965C>T , LRG_56:g.47965C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696231.1:c.*1194C>T	ENSP00000512497.1:n.*1194C>T
ENST00000696232.1:c.2232-2413C>T	ENSP00000512498.1:n.2232-2413C>T
ENST00000696233.1:c.*975-2413C>T	ENSP00000512499.1:n.*975-2413C>T
ENST00000696238.1:c.*986C>T	ENSP00000512502.1:n.*986C>T
ENST00000696239.1:c.2024C>T	ENSP00000512503.1:p.Ala675Val
ENST00000696245.1:n.327-860C>T
ENST00000201963.3:c.2219C>T	ENSP00000201963.3:p.Ala740Val
ENST00000328111.6:c.2243C>T MANE Select	ENSP00000328547.2:p.Ala748Val
ENST00000348286.6:c.2172-2413C>T	ENSP00000337764.2:n.2172-2413C>T
ENST00000353855.6:c.2183C>T	ENSP00000313397.4:p.Ala728Val
ENST00000443239.7:c.2046-2413C>T	ENSP00000403169.2:n.2046-2413C>T
ENST00000456297.6:c.1944-2413C>T	ENSP00000412305.1:n.1944-2413C>T
NM_001207055.1:c.2046-2413C>T	NP_001193984.1:n.2046-2413C>T
NM_001207056.1:c.1944-2413C>T	NP_001193985.1:n.1944-2413C>T
NM_006892.3:c.2243C>T , LRG_56t1:c.2243C>T	NP_008823.1:p.Ala748Val
NM_175848.1:c.2183C>T	NP_787044.1:p.Ala728Val
NM_175849.1:c.2172-2413C>T	NP_787045.1:n.2172-2413C>T
NM_175850.2:c.2219C>T	NP_787046.1:p.Ala740Val
XM_011528653.1:c.2208-2413C>T	XP_011526955.1:n.2208-2413C>T
XM_011528654.1:c.2082-2413C>T	XP_011526956.1:n.2082-2413C>T
XR_936510.1:n.2210C>T
XR_936511.1:n.2199-2413C>T
XR_936512.1:n.2085C>T
XM_011528653.2:c.2208-2413C>T	XP_011526955.1:n.2208-2413C>T
XM_011528654.2:c.2082-2413C>T	XP_011526956.1:n.2082-2413C>T
XR_936510.2:n.2221C>T
XR_936511.2:n.2210-2413C>T
XR_936512.2:n.2097C>T
NM_001207055.2:c.2046-2413C>T	NP_001193984.1:n.2046-2413C>T
NM_001207056.2:c.1944-2413C>T	NP_001193985.1:n.1944-2413C>T
NM_006892.4:c.2243C>T MANE Select	NP_008823.1:p.Ala748Val
NM_175848.2:c.2183C>T	NP_787044.1:p.Ala728Val
NM_175849.2:c.2172-2413C>T	NP_787045.1:n.2172-2413C>T
NM_175850.3:c.2219C>T	NP_787046.1:p.Ala740Val