Canonical Allele Identifier: CA1555657
Gene: DNMT3A HGNC NCBI

Linked Data

ClinVar Variation Id: 438287
dbSNP Id: rs757823678
gnomAD v2: 2-25463181-C-T
gnomAD v3: 2-25240312-C-T
gnomAD v4: 2-25240312-C-T

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