Canonical Allele Identifier: CA408588511

Gene: DNMT3B

Linked Data

• dbSNP Id: rs1477651398
• gnomAD v2: 20-31388078-G-A
• gnomAD v4: 20-32800272-G-A
• COSMIC: COSM1025807 ; COSM1025808
• MyVariant Identifiers: chr20:g.31388078G>A (hg19) ; chr20:g.32800272G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32800272G>A , CM000682.2:g.32800272G>A	GRCh38
NC_000020.10:g.31388078G>A , CM000682.1:g.31388078G>A	GRCh37
NC_000020.9:g.30851739G>A	NCBI36
NG_007290.1:g.42888G>A , LRG_56:g.42888G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.*830G>A	ENSP00000512497.1:n.*830G>A
ENST00000696232.1:c.1879G>A	ENSP00000512498.1:p.Asp627Asn
ENST00000696233.1:c.*622G>A	ENSP00000512499.1:n.*622G>A
ENST00000696235.1:c.*527G>A	ENSP00000512500.1:n.*527G>A
ENST00000696238.1:c.*622G>A	ENSP00000512502.1:n.*622G>A
ENST00000696239.1:c.1660G>A	ENSP00000512503.1:p.Asp554Asn
ENST00000201963.3:c.1855G>A	ENSP00000201963.3:p.Asp619Asn
ENST00000328111.6:c.1879G>A MANE Select	ENSP00000328547.2:p.Asp627Asn
ENST00000348286.6:c.1819G>A	ENSP00000337764.2:p.Asp607Asn
ENST00000353855.6:c.1819G>A	ENSP00000313397.4:p.Asp607Asn
ENST00000443239.7:c.1693G>A	ENSP00000403169.2:p.Asp565Asn
ENST00000456297.6:c.1591G>A	ENSP00000412305.1:p.Asp531Asn
NM_001207055.1:c.1693G>A	NP_001193984.1:p.Asp565Asn
NM_001207056.1:c.1591G>A	NP_001193985.1:p.Asp531Asn
NM_006892.3:c.1879G>A , LRG_56t1:c.1879G>A	NP_008823.1:p.Asp627Asn
NM_175848.1:c.1819G>A	NP_787044.1:p.Asp607Asn
NM_175849.1:c.1819G>A	NP_787045.1:p.Asp607Asn
NM_175850.2:c.1855G>A	NP_787046.1:p.Asp619Asn
XM_011528653.1:c.1855G>A	XP_011526955.1:p.Asp619Asn
XM_011528654.1:c.1729G>A	XP_011526956.1:p.Asp577Asn
XR_936510.1:n.1846G>A
XR_936511.1:n.1846G>A
XR_936512.1:n.1721G>A
XM_011528653.2:c.1855G>A	XP_011526955.1:p.Asp619Asn
XM_011528654.2:c.1729G>A	XP_011526956.1:p.Asp577Asn
XR_936510.2:n.1857G>A
XR_936511.2:n.1857G>A
XR_936512.2:n.1733G>A
NM_001207055.2:c.1693G>A	NP_001193984.1:p.Asp565Asn
NM_001207056.2:c.1591G>A	NP_001193985.1:p.Asp531Asn
NM_006892.4:c.1879G>A MANE Select	NP_008823.1:p.Asp627Asn
NM_175848.2:c.1819G>A	NP_787044.1:p.Asp607Asn
NM_175849.2:c.1819G>A	NP_787045.1:p.Asp607Asn
NM_175850.3:c.1855G>A	NP_787046.1:p.Asp619Asn