Canonical Allele Identifier: CA1555464
Gene: DNMT3A HGNC NCBI

Linked Data

ClinVar Variation Id: 372798
dbSNP Id: rs149095705
gnomAD v2: 2-25457176-G-A
gnomAD v3: 2-25234307-G-A
gnomAD v4: 2-25234307-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25234307G>A , CM000664.2:g.25234307G>A GRCh38
NC_000002.11:g.25457176G>A , CM000664.1:g.25457176G>A GRCh37
NC_000002.10:g.25310680G>A NCBI36
NG_029465.2:g.113284C>T , LRG_459:g.113284C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.960C>T
ENST00000683393.1:c.1857C>T ENSP00000508654.1:n.1857C>T
ENST00000683760.1:c.2042C>T ENSP00000507765.1:p.Pro681Leu
ENST00000321117.10:c.2711C>T MANE Select ENSP00000324375.5:p.Pro904Leu
ENST00000264709.7:c.2711C>T ENSP00000264709.3:p.Pro904Leu
ENST00000321117.9:c.2711C>T ENSP00000324375.5:p.Pro904Leu
ENST00000380746.8:c.2144C>T ENSP00000370122.4:p.Pro715Leu
ENST00000380756.7:c.*564C>T ENSP00000370132.3:n.*564C>T
ENST00000402667.1:c.2042C>T ENSP00000384237.1:p.Pro681Leu
NM_022552.4:c.2711C>T , LRG_459t1:c.2711C>T NP_072046.2:p.Pro904Leu
NM_153759.3:c.2144C>T , LRG_459t2:c.2144C>T NP_715640.2:p.Pro715Leu
NM_175629.2:c.2711C>T , LRG_459t4:c.2711C>T NP_783328.1:p.Pro904Leu
XM_005264175.3:c.2711C>T XP_005264232.1:p.Pro904Leu
XM_005264177.3:c.2042C>T XP_005264234.1:p.Pro681Leu
XM_006711958.2:c.2267C>T XP_006712021.1:p.Pro756Leu
XM_011532662.1:c.2564C>T XP_011530964.1:p.Pro855Leu
XM_011532663.1:c.2546C>T XP_011530965.1:p.Pro849Leu
XM_011532665.1:c.2255C>T XP_011530967.1:p.Pro752Leu
XM_011532666.1:c.2183C>T XP_011530968.1:p.Pro728Leu
XM_011532667.1:c.2042C>T XP_011530969.1:p.Pro681Leu
NM_001320893.1:c.2255C>T NP_001307822.1:p.Pro752Leu
NR_135490.1:n.3248C>T
XM_005264175.5:c.2711C>T XP_005264232.1:p.Pro904Leu
XM_005264177.4:c.2042C>T XP_005264234.1:p.Pro681Leu
XM_011532662.2:c.2564C>T XP_011530964.1:p.Pro855Leu
XM_011532663.2:c.2546C>T XP_011530965.1:p.Pro849Leu
XM_011532666.2:c.2183C>T XP_011530968.1:p.Pro728Leu
XM_011532667.3:c.2042C>T XP_011530969.1:p.Pro681Leu
XM_017003526.1:c.2711C>T XP_016859015.1:p.Pro904Leu
XM_017003527.1:c.2042C>T XP_016859016.1:p.Pro681Leu
XR_001738657.1:n.2918C>T
NM_001375819.1:c.2042C>T NP_001362748.1:p.Pro681Leu
NR_135490.2:n.3141C>T
NM_022552.5:c.2711C>T MANE Select NP_072046.2:p.Pro904Leu