Canonical Allele Identifier: CA1555489
Gene: DNMT3A HGNC NCBI

Linked Data

ClinVar Variation Id: 375880
dbSNP Id: rs147001633
gnomAD v2: 2-25457242-C-G
gnomAD v3: 2-25234373-C-G
gnomAD v4: 2-25234373-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25234373C>G , CM000664.2:g.25234373C>G GRCh38
NC_000002.11:g.25457242C>G , CM000664.1:g.25457242C>G GRCh37
NC_000002.10:g.25310746C>G NCBI36
NG_029465.2:g.113218G>C , LRG_459:g.113218G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.894G>C
ENST00000683393.1:c.1791G>C ENSP00000508654.1:n.1791G>C
ENST00000683760.1:c.1976G>C ENSP00000507765.1:p.Arg659Pro
ENST00000321117.10:c.2645G>C MANE Select ENSP00000324375.5:p.Arg882Pro
ENST00000264709.7:c.2645G>C ENSP00000264709.3:p.Arg882Pro
ENST00000321117.9:c.2645G>C ENSP00000324375.5:p.Arg882Pro
ENST00000380746.8:c.2078G>C ENSP00000370122.4:p.Arg693Pro
ENST00000380756.7:c.*498G>C ENSP00000370132.3:n.*498G>C
ENST00000402667.1:c.1976G>C ENSP00000384237.1:p.Arg659Pro
NM_022552.4:c.2645G>C , LRG_459t1:c.2645G>C NP_072046.2:p.Arg882Pro
NM_153759.3:c.2078G>C , LRG_459t2:c.2078G>C NP_715640.2:p.Arg693Pro
NM_175629.2:c.2645G>C , LRG_459t4:c.2645G>C NP_783328.1:p.Arg882Pro
XM_005264175.3:c.2645G>C XP_005264232.1:p.Arg882Pro
XM_005264177.3:c.1976G>C XP_005264234.1:p.Arg659Pro
XM_006711958.2:c.2201G>C XP_006712021.1:p.Arg734Pro
XM_011532662.1:c.2498G>C XP_011530964.1:p.Arg833Pro
XM_011532663.1:c.2480G>C XP_011530965.1:p.Arg827Pro
XM_011532665.1:c.2189G>C XP_011530967.1:p.Arg730Pro
XM_011532666.1:c.2117G>C XP_011530968.1:p.Arg706Pro
XM_011532667.1:c.1976G>C XP_011530969.1:p.Arg659Pro
NM_001320893.1:c.2189G>C NP_001307822.1:p.Arg730Pro
NR_135490.1:n.3182G>C
XM_005264175.5:c.2645G>C XP_005264232.1:p.Arg882Pro
XM_005264177.4:c.1976G>C XP_005264234.1:p.Arg659Pro
XM_011532662.2:c.2498G>C XP_011530964.1:p.Arg833Pro
XM_011532663.2:c.2480G>C XP_011530965.1:p.Arg827Pro
XM_011532666.2:c.2117G>C XP_011530968.1:p.Arg706Pro
XM_011532667.3:c.1976G>C XP_011530969.1:p.Arg659Pro
XM_017003526.1:c.2645G>C XP_016859015.1:p.Arg882Pro
XM_017003527.1:c.1976G>C XP_016859016.1:p.Arg659Pro
XR_001738657.1:n.2852G>C
NM_001375819.1:c.1976G>C NP_001362748.1:p.Arg659Pro
NR_135490.2:n.3075G>C
NM_022552.5:c.2645G>C MANE Select NP_072046.2:p.Arg882Pro