Canonical Allele Identifier: CA119734
Gene: NR3C2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.148114132A>G
GRCh37 chr4:g.149035283A>G
Revel Score:
ENST00000344721 0.972
ENST00000355292 0.972
ENST00000358102 (MANE Select) 0.972
ENST00000512865 0.972
ENST00000511528 0.972
gnomAD v4:
chr4-148114132-A-G
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar Allele:
23598
ClinVar RCV:
RCV000009090
RCV001804719
ClinVar Variation:
8559
dbSNP:
121912563
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148114132A>G , CM000666.2:g.148114132A>G GRCh38
NC_000004.11:g.149035283A>G , CM000666.1:g.149035283A>G GRCh37
NC_000004.10:g.149254733A>G NCBI36
NG_013350.1:g.333390T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358102.8:c.2771T>C MANE Select ENSP00000350815.3:p.Leu924Pro
ENST00000342437.8:c.*154T>C ENSP00000343907.4:n.*154T>C
ENST00000344721.8:c.2771T>C ENSP00000341390.4:p.Leu924Pro
ENST00000358102.7:c.2771T>C ENSP00000350815.3:p.Leu924Pro
ENST00000511528.1:c.2783T>C ENSP00000421481.1:p.Leu928Pro
ENST00000512865.5:c.2420T>C ENSP00000423510.1:p.Leu807Pro
ENST00000625323.2:c.2783T>C ENSP00000486719.1:p.Leu928Pro
NM_000901.4:c.2771T>C NP_000892.2:p.Leu924Pro
NM_001166104.1:c.2420T>C NP_001159576.1:p.Leu807Pro
XM_011531975.1:c.2783T>C XP_011530277.1:p.Leu928Pro
XM_011531976.1:c.2783T>C XP_011530278.1:p.Leu928Pro
XM_011531977.1:c.2783T>C XP_011530279.1:p.Leu928Pro
NM_001354819.1:c.2420T>C NP_001341748.1:p.Leu807Pro
NR_148974.1:n.2638T>C
NM_000901.5:c.2771T>C MANE Select NP_000892.2:p.Leu924Pro
NM_001166104.2:c.2420T>C NP_001159576.1:p.Leu807Pro
NR_148974.2:n.2532T>C
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