Canonical Allele Identifier: CA2469909
Gene: DNASE1L3 HGNC NCBI
COSMIC:
COSM5021410 (not active)
MyVariant.info:
GRCh38 chr3:g.58197909G>A
GRCh37 chr3:g.58183636G>A
Revel Score:
ENST00000486455 0.523
ENST00000450710 0.523
ENST00000318316 0.523
ENST00000483681 0.523
ENST00000477209 0.523
ENST00000394549 (MANE Select) 0.523
gnomAD v2:
3:58183636 G / A
gnomAD v3:
3:58197909 G / A
gnomAD v4:
chr3-58197909-G-A
Joint Max Group AF 0.07835622 (NFE)
Genomes Max Group AF 0.0739299 (NFE)
Exomes Max Group AF 0.07853358 (NFE)
ClinVar RCV:
RCV001486136
ClinVar Variation:
1146799
dbSNP:
35677470
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58197909G>A , CM000665.2:g.58197909G>A GRCh38
NC_000003.11:g.58183636G>A , CM000665.1:g.58183636G>A GRCh37
NC_000003.10:g.58158676G>A NCBI36
NG_032070.1:g.18095C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394549.7:c.616C>T MANE Select ENSP00000378053.2:p.Arg206Cys
ENST00000394549.6:c.616C>T ENSP00000378053.2:p.Arg206Cys
ENST00000477209.5:c.238C>T ENSP00000417976.1:p.Arg80Cys
ENST00000483681.5:c.616C>T ENSP00000417047.1:p.Arg206Cys
ENST00000486455.5:c.526C>T ENSP00000419052.1:p.Arg176Cys
NM_001256560.1:c.526C>T NP_001243489.1:p.Arg176Cys
NM_004944.3:c.616C>T NP_004935.1:p.Arg206Cys
NM_004944.4:c.616C>T MANE Select NP_004935.1:p.Arg206Cys
NM_001256560.2:c.526C>T NP_001243489.1:p.Arg176Cys
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