Canonical Allele Identifier: CA645372359

Gene: DNMT3A

Linked Data

• ClinVar Variation Id: 434954
• ClinVar RCV Id: RCV000500562 ; RCV003746529
• dbSNP Id: rs771608861
• MyVariant Identifiers: chr2:g.25470031G>A (hg19) ; chr2:g.25247162G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25247162G>A , CM000664.2:g.25247162G>A	GRCh38
NC_000002.11:g.25470031G>A , CM000664.1:g.25470031G>A	GRCh37
NC_000002.10:g.25323535G>A	NCBI36
NG_029465.2:g.100429C>T , LRG_459:g.100429C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683393.1:c.121-4C>T	ENSP00000508654.1:n.121-4C>T
ENST00000683760.1:c.346-4C>T	ENSP00000507765.1:n.346-4C>T
ENST00000321117.10:c.1015-4C>T MANE Select	ENSP00000324375.5:n.1015-4C>T
ENST00000264709.7:c.1015-4C>T	ENSP00000264709.3:n.1015-4C>T
ENST00000321117.9:c.1015-4C>T	ENSP00000324375.5:n.1015-4C>T
ENST00000380746.8:c.448-4C>T	ENSP00000370122.4:n.448-4C>T
ENST00000380756.7:c.1015-4C>T	ENSP00000370132.3:n.1015-4C>T
ENST00000402667.1:c.346-4C>T	ENSP00000384237.1:n.346-4C>T
ENST00000470983.5:n.462-4C>T
ENST00000474807.5:n.310-4C>T
ENST00000484184.1:n.405C>T
ENST00000496570.1:n.548-4C>T
NM_022552.4:c.1015-4C>T , LRG_459t1:c.1015-4C>T	NP_072046.2:n.1015-4C>T
NM_153759.3:c.448-4C>T , LRG_459t2:c.448-4C>T	NP_715640.2:n.448-4C>T
NM_175629.2:c.1015-4C>T , LRG_459t4:c.1015-4C>T	NP_783328.1:n.1015-4C>T
XM_005264175.3:c.1015-4C>T	XP_005264232.1:n.1015-4C>T
XM_005264177.3:c.346-4C>T	XP_005264234.1:n.346-4C>T
XM_006711957.2:c.1015-4C>T	XP_006712020.1:n.1015-4C>T
XM_006711958.2:c.571-4C>T	XP_006712021.1:n.571-4C>T
XM_011532662.1:c.868-4C>T	XP_011530964.1:n.868-4C>T
XM_011532663.1:c.850-4C>T	XP_011530965.1:n.850-4C>T
XM_011532664.1:c.1015-4C>T	XP_011530966.1:n.1015-4C>T
XM_011532665.1:c.559-4C>T	XP_011530967.1:n.559-4C>T
XM_011532666.1:c.487-4C>T	XP_011530968.1:n.487-4C>T
XM_011532667.1:c.346-4C>T	XP_011530969.1:n.346-4C>T
XM_011532668.1:c.1015-4C>T	XP_011530970.1:n.1015-4C>T
NM_001320893.1:c.559-4C>T	NP_001307822.1:n.559-4C>T
NR_135490.1:n.1353-4C>T
XM_005264175.5:c.1015-4C>T	XP_005264232.1:n.1015-4C>T
XM_005264177.4:c.346-4C>T	XP_005264234.1:n.346-4C>T
XM_011532662.2:c.868-4C>T	XP_011530964.1:n.868-4C>T
XM_011532663.2:c.850-4C>T	XP_011530965.1:n.850-4C>T
XM_011532664.2:c.1015-4C>T	XP_011530966.1:n.1015-4C>T
XM_011532666.2:c.487-4C>T	XP_011530968.1:n.487-4C>T
XM_011532667.3:c.346-4C>T	XP_011530969.1:n.346-4C>T
XM_017003526.1:c.1015-4C>T	XP_016859015.1:n.1015-4C>T
XM_017003527.1:c.346-4C>T	XP_016859016.1:n.346-4C>T
XR_001738657.1:n.1292-4C>T
NM_001375819.1:c.346-4C>T	NP_001362748.1:n.346-4C>T
NR_135490.2:n.1246-4C>T
NM_022552.5:c.1015-4C>T MANE Select	NP_072046.2:n.1015-4C>T