Canonical Allele Identifier: CA346071783

Gene: DNMT3A

Linked Data

• dbSNP Id: rs1674438806
• gnomAD v3: 2-25244220-G-A
• gnomAD v4: 2-25244220-G-A
• MyVariant Identifiers: chr2:g.25467089G>A (hg19) ; chr2:g.25244220G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25244220G>A , CM000664.2:g.25244220G>A	GRCh38
NC_000002.11:g.25467089G>A , CM000664.1:g.25467089G>A	GRCh37
NC_000002.10:g.25320593G>A	NCBI36
NG_029465.2:g.103371C>T , LRG_459:g.103371C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.105C>T
ENST00000683393.1:c.932C>T	ENSP00000508654.1:n.932C>T
ENST00000683760.1:c.1117C>T	ENSP00000507765.1:p.Arg373Trp
ENST00000321117.10:c.1786C>T MANE Select	ENSP00000324375.5:p.Arg596Trp
ENST00000264709.7:c.1786C>T	ENSP00000264709.3:p.Arg596Trp
ENST00000321117.9:c.1786C>T	ENSP00000324375.5:p.Arg596Trp
ENST00000380746.8:c.1219C>T	ENSP00000370122.4:p.Arg407Trp
ENST00000380756.7:c.1786C>T	ENSP00000370132.3:p.Arg596Trp
ENST00000402667.1:c.1117C>T	ENSP00000384237.1:p.Arg373Trp
ENST00000474887.5:n.105C>T
NM_022552.4:c.1786C>T , LRG_459t1:c.1786C>T	NP_072046.2:p.Arg596Trp
NM_153759.3:c.1219C>T , LRG_459t2:c.1219C>T	NP_715640.2:p.Arg407Trp
NM_175629.2:c.1786C>T , LRG_459t4:c.1786C>T	NP_783328.1:p.Arg596Trp
XM_005264175.3:c.1786C>T	XP_005264232.1:p.Arg596Trp
XM_005264177.3:c.1117C>T	XP_005264234.1:p.Arg373Trp
XM_006711957.2:c.1786C>T	XP_006712020.1:p.Arg596Trp
XM_006711958.2:c.1342C>T	XP_006712021.1:p.Arg448Trp
XM_011532662.1:c.1639C>T	XP_011530964.1:p.Arg547Trp
XM_011532663.1:c.1621C>T	XP_011530965.1:p.Arg541Trp
XM_011532664.1:c.1786C>T	XP_011530966.1:p.Arg596Trp
XM_011532665.1:c.1330C>T	XP_011530967.1:p.Arg444Trp
XM_011532666.1:c.1258C>T	XP_011530968.1:p.Arg420Trp
XM_011532667.1:c.1117C>T	XP_011530969.1:p.Arg373Trp
XM_011532668.1:c.1786C>T	XP_011530970.1:p.Arg596Trp
NM_001320893.1:c.1330C>T	NP_001307822.1:p.Arg444Trp
NR_135490.1:n.2124C>T
XM_005264175.5:c.1786C>T	XP_005264232.1:p.Arg596Trp
XM_005264177.4:c.1117C>T	XP_005264234.1:p.Arg373Trp
XM_011532662.2:c.1639C>T	XP_011530964.1:p.Arg547Trp
XM_011532663.2:c.1621C>T	XP_011530965.1:p.Arg541Trp
XM_011532664.2:c.1786C>T	XP_011530966.1:p.Arg596Trp
XM_011532666.2:c.1258C>T	XP_011530968.1:p.Arg420Trp
XM_011532667.3:c.1117C>T	XP_011530969.1:p.Arg373Trp
XM_017003526.1:c.1786C>T	XP_016859015.1:p.Arg596Trp
XM_017003527.1:c.1117C>T	XP_016859016.1:p.Arg373Trp
XR_001738657.1:n.2063C>T
NM_001375819.1:c.1117C>T	NP_001362748.1:p.Arg373Trp
NR_135490.2:n.2017C>T
NM_022552.5:c.1786C>T MANE Select	NP_072046.2:p.Arg596Trp