Canonical Allele Identifier: CA321770179
Gene: DNMT3L HGNC NCBI
COSMIC:
COSN19625715 (not active)
MyVariant.info:
GRCh38 chr21:g.44259375T>C
GRCh37 chr21:g.45679258T>C
gnomAD v2:
21:45679258 T / C
gnomAD v3:
21:44259375 T / C
gnomAD v4:
chr21-44259375-T-C
Joint Max Group AF 0.27505274 (EAS)
Genomes Max Group AF 0.27369162 (EAS)
Exomes Max Group AF 0.2739151 (EAS)
dbSNP:
2276248
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44259375T>C , CM000683.2:g.44259375T>C GRCh38
NC_000021.8:g.45679258T>C , CM000683.1:g.45679258T>C GRCh37
NC_000021.7:g.44503686T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000628202.3:c.344+62A>G MANE Select ENSP00000486001.1:n.344+62A>G
ENST00000270172.7:c.344+62A>G ENSP00000270172.3:n.344+62A>G
ENST00000431166.1:c.299+62A>G ENSP00000400242.1:n.299+62A>G
ENST00000628202.2:c.344+62A>G ENSP00000486001.1:n.344+62A>G
NM_013369.3:c.344+62A>G NP_037501.2:n.344+62A>G
NM_175867.2:c.344+62A>G NP_787063.1:n.344+62A>G
XM_011529536.1:c.344+62A>G XP_011527838.1:n.344+62A>G
NM_013369.4:c.344+62A>G NP_037501.2:n.344+62A>G
NM_175867.3:c.344+62A>G MANE Select NP_787063.1:n.344+62A>G
Search 100 bp 5'
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