Canonical Allele Identifier: CA1555657

Gene: DNMT3A

Linked Data

• ClinVar Variation Id: 438287
• ClinVar RCV Id: RCV000505187 ; RCV000624769
• dbSNP Id: rs757823678
• ExAC: 2:25463181 C / T
• gnomAD v2: 2-25463181-C-T
• gnomAD v3: 2-25240312-C-T
• gnomAD v4: 2-25240312-C-T
• COSMIC: COSM133732 ; COSM720760
• MyVariant Identifiers: chr2:g.25463181C>T (hg19) ; chr2:g.25240312C>T (hg38)
• PubMed: PMID:1423634 ; PMID:2717398 ; PMID:10325416 ; PMID:10433969 ; PMID:10555141 ; PMID:10647011 ; PMID:11399089 ; PMID:12138111 ; PMID:12359337 ; PMID:12575993 ; PMID:15063176 ; PMID:15672446 ; PMID:15739230 ; PMID:16357870 ; PMID:16501171 ; PMID:16725135 ; PMID:17445268 ; PMID:17878930 ; PMID:19344873 ; PMID:19854944 ; PMID:20228804 ; PMID:20651149 ; PMID:20729844 ; PMID:21067377 ; PMID:21507354 ; PMID:21844811 ; PMID:22495306 ; PMID:23849776 ; PMID:24614070 ; PMID:26866722 ; PMID:27701732 ; PMID:28386848 ; PMID:28475857 ; PMID:28667884 ; PMID:28941052

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240312C>T , CM000664.2:g.25240312C>T	GRCh38
NC_000002.11:g.25463181C>T , CM000664.1:g.25463181C>T	GRCh37
NC_000002.10:g.25316685C>T	NCBI36
NG_029465.2:g.107279G>A , LRG_459:g.107279G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.631G>A
ENST00000683393.1:c.1458G>A	ENSP00000508654.1:n.1458G>A
ENST00000683760.1:c.1643G>A	ENSP00000507765.1:p.Arg548Gln
ENST00000321117.10:c.2312G>A MANE Select	ENSP00000324375.5:p.Arg771Gln
ENST00000264709.7:c.2312G>A	ENSP00000264709.3:p.Arg771Gln
ENST00000321117.9:c.2312G>A	ENSP00000324375.5:p.Arg771Gln
ENST00000380746.8:c.1745G>A	ENSP00000370122.4:p.Arg582Gln
ENST00000380756.7:c.2312G>A	ENSP00000370132.3:p.Arg771Gln
ENST00000402667.1:c.1643G>A	ENSP00000384237.1:p.Arg548Gln
ENST00000461228.1:n.531G>A
ENST00000466601.5:n.684G>A
ENST00000474887.5:n.631G>A
ENST00000482935.5:n.312G>A
ENST00000491288.5:n.310+328G>A
NM_022552.4:c.2312G>A , LRG_459t1:c.2312G>A	NP_072046.2:p.Arg771Gln
NM_153759.3:c.1745G>A , LRG_459t2:c.1745G>A	NP_715640.2:p.Arg582Gln
NM_175629.2:c.2312G>A , LRG_459t4:c.2312G>A	NP_783328.1:p.Arg771Gln
XM_005264175.3:c.2312G>A	XP_005264232.1:p.Arg771Gln
XM_005264177.3:c.1643G>A	XP_005264234.1:p.Arg548Gln
XM_006711957.2:c.2312G>A	XP_006712020.1:p.Arg771Gln
XM_006711958.2:c.1868G>A	XP_006712021.1:p.Arg623Gln
XM_011532662.1:c.2165G>A	XP_011530964.1:p.Arg722Gln
XM_011532663.1:c.2147G>A	XP_011530965.1:p.Arg716Gln
XM_011532664.1:c.2312G>A	XP_011530966.1:p.Arg771Gln
XM_011532665.1:c.1856G>A	XP_011530967.1:p.Arg619Gln
XM_011532666.1:c.1784G>A	XP_011530968.1:p.Arg595Gln
XM_011532667.1:c.1643G>A	XP_011530969.1:p.Arg548Gln
XM_011532668.1:c.2312G>A	XP_011530970.1:p.Arg771Gln
NM_001320893.1:c.1856G>A	NP_001307822.1:p.Arg619Gln
NR_135490.1:n.2650G>A
XM_005264175.5:c.2312G>A	XP_005264232.1:p.Arg771Gln
XM_005264177.4:c.1643G>A	XP_005264234.1:p.Arg548Gln
XM_011532662.2:c.2165G>A	XP_011530964.1:p.Arg722Gln
XM_011532663.2:c.2147G>A	XP_011530965.1:p.Arg716Gln
XM_011532664.2:c.2312G>A	XP_011530966.1:p.Arg771Gln
XM_011532666.2:c.1784G>A	XP_011530968.1:p.Arg595Gln
XM_011532667.3:c.1643G>A	XP_011530969.1:p.Arg548Gln
XM_017003526.1:c.2312G>A	XP_016859015.1:p.Arg771Gln
XM_017003527.1:c.1643G>A	XP_016859016.1:p.Arg548Gln
XR_001738657.1:n.2589G>A
NM_001375819.1:c.1643G>A	NP_001362748.1:p.Arg548Gln
NR_135490.2:n.2543G>A
NM_022552.5:c.2312G>A MANE Select	NP_072046.2:p.Arg771Gln