Canonical Allele Identifier: CA43698606

Gene: DNMT3A

Linked Data

• dbSNP Id: rs758845779
• gnomAD v4: 2-25240315-G-C
• COSMIC: COSM87010 ; COSM5708158
• MyVariant Identifiers: chr2:g.25463184G>C (hg19) ; chr2:g.25240315G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240315G>C , CM000664.2:g.25240315G>C	GRCh38
NC_000002.11:g.25463184G>C , CM000664.1:g.25463184G>C	GRCh37
NC_000002.10:g.25316688G>C	NCBI36
NG_029465.2:g.107276C>G , LRG_459:g.107276C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.628C>G
ENST00000683393.1:c.1455C>G	ENSP00000508654.1:n.1455C>G
ENST00000683760.1:c.1640C>G	ENSP00000507765.1:p.Ser547Trp
ENST00000321117.10:c.2309C>G MANE Select	ENSP00000324375.5:p.Ser770Trp
ENST00000264709.7:c.2309C>G	ENSP00000264709.3:p.Ser770Trp
ENST00000321117.9:c.2309C>G	ENSP00000324375.5:p.Ser770Trp
ENST00000380746.8:c.1742C>G	ENSP00000370122.4:p.Ser581Trp
ENST00000380756.7:c.2309C>G	ENSP00000370132.3:p.Ser770Trp
ENST00000402667.1:c.1640C>G	ENSP00000384237.1:p.Ser547Trp
ENST00000461228.1:n.528C>G
ENST00000466601.5:n.681C>G
ENST00000474887.5:n.628C>G
ENST00000482935.5:n.309C>G
ENST00000491288.5:n.310+325C>G
NM_022552.4:c.2309C>G , LRG_459t1:c.2309C>G	NP_072046.2:p.Ser770Trp
NM_153759.3:c.1742C>G , LRG_459t2:c.1742C>G	NP_715640.2:p.Ser581Trp
NM_175629.2:c.2309C>G , LRG_459t4:c.2309C>G	NP_783328.1:p.Ser770Trp
XM_005264175.3:c.2309C>G	XP_005264232.1:p.Ser770Trp
XM_005264177.3:c.1640C>G	XP_005264234.1:p.Ser547Trp
XM_006711957.2:c.2309C>G	XP_006712020.1:p.Ser770Trp
XM_006711958.2:c.1865C>G	XP_006712021.1:p.Ser622Trp
XM_011532662.1:c.2162C>G	XP_011530964.1:p.Ser721Trp
XM_011532663.1:c.2144C>G	XP_011530965.1:p.Ser715Trp
XM_011532664.1:c.2309C>G	XP_011530966.1:p.Ser770Trp
XM_011532665.1:c.1853C>G	XP_011530967.1:p.Ser618Trp
XM_011532666.1:c.1781C>G	XP_011530968.1:p.Ser594Trp
XM_011532667.1:c.1640C>G	XP_011530969.1:p.Ser547Trp
XM_011532668.1:c.2309C>G	XP_011530970.1:p.Ser770Trp
NM_001320893.1:c.1853C>G	NP_001307822.1:p.Ser618Trp
NR_135490.1:n.2647C>G
XM_005264175.5:c.2309C>G	XP_005264232.1:p.Ser770Trp
XM_005264177.4:c.1640C>G	XP_005264234.1:p.Ser547Trp
XM_011532662.2:c.2162C>G	XP_011530964.1:p.Ser721Trp
XM_011532663.2:c.2144C>G	XP_011530965.1:p.Ser715Trp
XM_011532664.2:c.2309C>G	XP_011530966.1:p.Ser770Trp
XM_011532666.2:c.1781C>G	XP_011530968.1:p.Ser594Trp
XM_011532667.3:c.1640C>G	XP_011530969.1:p.Ser547Trp
XM_017003526.1:c.2309C>G	XP_016859015.1:p.Ser770Trp
XM_017003527.1:c.1640C>G	XP_016859016.1:p.Ser547Trp
XR_001738657.1:n.2586C>G
NM_001375819.1:c.1640C>G	NP_001362748.1:p.Ser547Trp
NR_135490.2:n.2540C>G
NM_022552.5:c.2309C>G MANE Select	NP_072046.2:p.Ser770Trp