Canonical Allele Identifier: CA510214245

Gene: DNMT3B

Linked Data

• ClinVar Variation Id: 1531864
• ClinVar RCV Id: RCV002084761
• dbSNP Id: rs2146098134
• MyVariant Identifiers: chr20:g.31395607C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32807801C>T , CM000682.2:g.32807801C>T	GRCh38
NC_000020.10:g.31395607C>T , CM000682.1:g.31395607C>T	GRCh37
NC_000020.9:g.30859268C>T	NCBI36
NG_007290.1:g.50417C>T , LRG_56:g.50417C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.*1411C>T	ENSP00000512497.1:n.*1411C>T
ENST00000696232.1:c.2271C>T	ENSP00000512498.1:p.Asn757=
ENST00000696233.1:c.*1014C>T	ENSP00000512499.1:n.*1014C>T
ENST00000696238.1:c.*1203C>T	ENSP00000512502.1:n.*1203C>T
ENST00000696239.1:c.2241C>T	ENSP00000512503.1:p.Asn747=
ENST00000696245.1:n.485C>T
ENST00000201963.3:c.2436C>T	ENSP00000201963.3:p.Asn812=
ENST00000328111.6:c.2460C>T MANE Select	ENSP00000328547.2:p.Asn820=
ENST00000348286.6:c.2211C>T	ENSP00000337764.2:p.Asn737=
ENST00000353855.6:c.2400C>T	ENSP00000313397.4:p.Asn800=
ENST00000443239.7:c.2085C>T	ENSP00000403169.2:p.Asn695=
ENST00000456297.6:c.1983C>T	ENSP00000412305.1:p.Asn661=
NM_001207055.1:c.2085C>T	NP_001193984.1:p.Asn695=
NM_001207056.1:c.1983C>T	NP_001193985.1:p.Asn661=
NM_006892.3:c.2460C>T , LRG_56t1:c.2460C>T	NP_008823.1:p.Asn820=
NM_175848.1:c.2400C>T	NP_787044.1:p.Asn800=
NM_175849.1:c.2211C>T	NP_787045.1:p.Asn737=
NM_175850.2:c.2436C>T	NP_787046.1:p.Asn812=
XM_011528653.1:c.2247C>T	XP_011526955.1:p.Asn749=
XM_011528654.1:c.2121C>T	XP_011526956.1:p.Asn707=
XR_936511.1:n.2238C>T
XM_011528653.2:c.2247C>T	XP_011526955.1:p.Asn749=
XM_011528654.2:c.2121C>T	XP_011526956.1:p.Asn707=
XR_936511.2:n.2249C>T
NM_001207055.2:c.2085C>T	NP_001193984.1:p.Asn695=
NM_001207056.2:c.1983C>T	NP_001193985.1:p.Asn661=
NM_006892.4:c.2460C>T MANE Select	NP_008823.1:p.Asn820=
NM_175848.2:c.2400C>T	NP_787044.1:p.Asn800=
NM_175849.2:c.2211C>T	NP_787045.1:p.Asn737=
NM_175850.3:c.2436C>T	NP_787046.1:p.Asn812=