Canonical Allele Identifier: CA408588429

Gene: DNMT3B

Linked Data

• ClinVar Variation Id: 952837
• ClinVar RCV Id: RCV001225027
• dbSNP Id: rs1568857280
• gnomAD v4: 20-32800231-T-C
• MyVariant Identifiers: chr20:g.31388037T>C (hg19) ; chr20:g.32800231T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32800231T>C , CM000682.2:g.32800231T>C	GRCh38
NC_000020.10:g.31388037T>C , CM000682.1:g.31388037T>C	GRCh37
NC_000020.9:g.30851698T>C	NCBI36
NG_007290.1:g.42847T>C , LRG_56:g.42847T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.*789T>C	ENSP00000512497.1:n.*789T>C
ENST00000696232.1:c.1838T>C	ENSP00000512498.1:p.Val613Ala
ENST00000696233.1:c.*581T>C	ENSP00000512499.1:n.*581T>C
ENST00000696235.1:c.*486T>C	ENSP00000512500.1:n.*486T>C
ENST00000696238.1:c.*581T>C	ENSP00000512502.1:n.*581T>C
ENST00000696239.1:c.1619T>C	ENSP00000512503.1:p.Val540Ala
ENST00000201963.3:c.1814T>C	ENSP00000201963.3:p.Val605Ala
ENST00000328111.6:c.1838T>C MANE Select	ENSP00000328547.2:p.Val613Ala
ENST00000348286.6:c.1778T>C	ENSP00000337764.2:p.Val593Ala
ENST00000353855.6:c.1778T>C	ENSP00000313397.4:p.Val593Ala
ENST00000443239.7:c.1652T>C	ENSP00000403169.2:p.Val551Ala
ENST00000456297.6:c.1550T>C	ENSP00000412305.1:p.Val517Ala
NM_001207055.1:c.1652T>C	NP_001193984.1:p.Val551Ala
NM_001207056.1:c.1550T>C	NP_001193985.1:p.Val517Ala
NM_006892.3:c.1838T>C , LRG_56t1:c.1838T>C	NP_008823.1:p.Val613Ala
NM_175848.1:c.1778T>C	NP_787044.1:p.Val593Ala
NM_175849.1:c.1778T>C	NP_787045.1:p.Val593Ala
NM_175850.2:c.1814T>C	NP_787046.1:p.Val605Ala
XM_011528653.1:c.1814T>C	XP_011526955.1:p.Val605Ala
XM_011528654.1:c.1688T>C	XP_011526956.1:p.Val563Ala
XR_936510.1:n.1805T>C
XR_936511.1:n.1805T>C
XR_936512.1:n.1680T>C
XM_011528653.2:c.1814T>C	XP_011526955.1:p.Val605Ala
XM_011528654.2:c.1688T>C	XP_011526956.1:p.Val563Ala
XR_936510.2:n.1816T>C
XR_936511.2:n.1816T>C
XR_936512.2:n.1692T>C
NM_001207055.2:c.1652T>C	NP_001193984.1:p.Val551Ala
NM_001207056.2:c.1550T>C	NP_001193985.1:p.Val517Ala
NM_006892.4:c.1838T>C MANE Select	NP_008823.1:p.Val613Ala
NM_175848.2:c.1778T>C	NP_787044.1:p.Val593Ala
NM_175849.2:c.1778T>C	NP_787045.1:p.Val593Ala
NM_175850.3:c.1814T>C	NP_787046.1:p.Val605Ala