Canonical Allele Identifier: CA346069943

Gene: DNMT3A

Linked Data

• dbSNP Id: rs776844126
• gnomAD v3: 2-25240370-A-G
• gnomAD v4: 2-25240370-A-G
• COSMIC: COSM133131 ; COSM4169945
• MyVariant Identifiers: chr2:g.25463239A>G (hg19) ; chr2:g.25240370A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240370A>G , CM000664.2:g.25240370A>G	GRCh38
NC_000002.11:g.25463239A>G , CM000664.1:g.25463239A>G	GRCh37
NC_000002.10:g.25316743A>G	NCBI36
NG_029465.2:g.107221T>C , LRG_459:g.107221T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.573T>C
ENST00000683393.1:c.1400T>C	ENSP00000508654.1:n.1400T>C
ENST00000683760.1:c.1585T>C	ENSP00000507765.1:p.Phe529Leu
ENST00000321117.10:c.2254T>C MANE Select	ENSP00000324375.5:p.Phe752Leu
ENST00000264709.7:c.2254T>C	ENSP00000264709.3:p.Phe752Leu
ENST00000321117.9:c.2254T>C	ENSP00000324375.5:p.Phe752Leu
ENST00000380746.8:c.1687T>C	ENSP00000370122.4:p.Phe563Leu
ENST00000380756.7:c.2254T>C	ENSP00000370132.3:p.Phe752Leu
ENST00000402667.1:c.1585T>C	ENSP00000384237.1:p.Phe529Leu
ENST00000461228.1:n.473T>C
ENST00000466601.5:n.626T>C
ENST00000474887.5:n.573T>C
ENST00000482935.5:n.254T>C
ENST00000491288.5:n.310+270T>C
NM_022552.4:c.2254T>C , LRG_459t1:c.2254T>C	NP_072046.2:p.Phe752Leu
NM_153759.3:c.1687T>C , LRG_459t2:c.1687T>C	NP_715640.2:p.Phe563Leu
NM_175629.2:c.2254T>C , LRG_459t4:c.2254T>C	NP_783328.1:p.Phe752Leu
XM_005264175.3:c.2254T>C	XP_005264232.1:p.Phe752Leu
XM_005264177.3:c.1585T>C	XP_005264234.1:p.Phe529Leu
XM_006711957.2:c.2254T>C	XP_006712020.1:p.Phe752Leu
XM_006711958.2:c.1810T>C	XP_006712021.1:p.Phe604Leu
XM_011532662.1:c.2107T>C	XP_011530964.1:p.Phe703Leu
XM_011532663.1:c.2089T>C	XP_011530965.1:p.Phe697Leu
XM_011532664.1:c.2254T>C	XP_011530966.1:p.Phe752Leu
XM_011532665.1:c.1798T>C	XP_011530967.1:p.Phe600Leu
XM_011532666.1:c.1726T>C	XP_011530968.1:p.Phe576Leu
XM_011532667.1:c.1585T>C	XP_011530969.1:p.Phe529Leu
XM_011532668.1:c.2254T>C	XP_011530970.1:p.Phe752Leu
NM_001320893.1:c.1798T>C	NP_001307822.1:p.Phe600Leu
NR_135490.1:n.2592T>C
XM_005264175.5:c.2254T>C	XP_005264232.1:p.Phe752Leu
XM_005264177.4:c.1585T>C	XP_005264234.1:p.Phe529Leu
XM_011532662.2:c.2107T>C	XP_011530964.1:p.Phe703Leu
XM_011532663.2:c.2089T>C	XP_011530965.1:p.Phe697Leu
XM_011532664.2:c.2254T>C	XP_011530966.1:p.Phe752Leu
XM_011532666.2:c.1726T>C	XP_011530968.1:p.Phe576Leu
XM_011532667.3:c.1585T>C	XP_011530969.1:p.Phe529Leu
XM_017003526.1:c.2254T>C	XP_016859015.1:p.Phe752Leu
XM_017003527.1:c.1585T>C	XP_016859016.1:p.Phe529Leu
XR_001738657.1:n.2531T>C
NM_001375819.1:c.1585T>C	NP_001362748.1:p.Phe529Leu
NR_135490.2:n.2485T>C
NM_022552.5:c.2254T>C MANE Select	NP_072046.2:p.Phe752Leu