Canonical Allele Identifier: CA408593177

Gene: DNMT3B

Linked Data

• dbSNP Id: rs1189341990
• gnomAD v2: 20-31395671-C-T
• gnomAD v4: 20-32807865-C-T
• MyVariant Identifiers: chr20:g.31395671C>T (hg19) ; chr20:g.32807865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32807865C>T , CM000682.2:g.32807865C>T	GRCh38
NC_000020.10:g.31395671C>T , CM000682.1:g.31395671C>T	GRCh37
NC_000020.9:g.30859332C>T	NCBI36
NG_007290.1:g.50481C>T , LRG_56:g.50481C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696231.1:c.*1475C>T	ENSP00000512497.1:n.*1475C>T
ENST00000696232.1:c.2335C>T	ENSP00000512498.1:p.Leu779Phe
ENST00000696233.1:c.*1078C>T	ENSP00000512499.1:n.*1078C>T
ENST00000696238.1:c.*1267C>T	ENSP00000512502.1:n.*1267C>T
ENST00000696239.1:c.2305C>T	ENSP00000512503.1:p.Leu769Phe
ENST00000696245.1:n.549C>T
ENST00000201963.3:c.2500C>T	ENSP00000201963.3:p.Leu834Phe
ENST00000328111.6:c.2524C>T MANE Select	ENSP00000328547.2:p.Leu842Phe
ENST00000348286.6:c.2275C>T	ENSP00000337764.2:p.Leu759Phe
ENST00000353855.6:c.2464C>T	ENSP00000313397.4:p.Leu822Phe
ENST00000443239.7:c.2149C>T	ENSP00000403169.2:p.Leu717Phe
ENST00000456297.6:c.2047C>T	ENSP00000412305.1:p.Leu683Phe
NM_001207055.1:c.2149C>T	NP_001193984.1:p.Leu717Phe
NM_001207056.1:c.2047C>T	NP_001193985.1:p.Leu683Phe
NM_006892.3:c.2524C>T , LRG_56t1:c.2524C>T	NP_008823.1:p.Leu842Phe
NM_175848.1:c.2464C>T	NP_787044.1:p.Leu822Phe
NM_175849.1:c.2275C>T	NP_787045.1:p.Leu759Phe
NM_175850.2:c.2500C>T	NP_787046.1:p.Leu834Phe
XM_011528653.1:c.2311C>T	XP_011526955.1:p.Leu771Phe
XM_011528654.1:c.2185C>T	XP_011526956.1:p.Leu729Phe
XR_936511.1:n.2302C>T
XM_011528653.2:c.2311C>T	XP_011526955.1:p.Leu771Phe
XM_011528654.2:c.2185C>T	XP_011526956.1:p.Leu729Phe
XR_936511.2:n.2313C>T
NM_001207055.2:c.2149C>T	NP_001193984.1:p.Leu717Phe
NM_001207056.2:c.2047C>T	NP_001193985.1:p.Leu683Phe
NM_006892.4:c.2524C>T MANE Select	NP_008823.1:p.Leu842Phe
NM_175848.2:c.2464C>T	NP_787044.1:p.Leu822Phe
NM_175849.2:c.2275C>T	NP_787045.1:p.Leu759Phe
NM_175850.3:c.2500C>T	NP_787046.1:p.Leu834Phe