Canonical Allele Identifier: CA119734

Gene: NR3C2

Linked Data

• ClinVar Variation Id: 8559
• ClinVar RCV Id: RCV000009090 ; RCV001804719
• dbSNP Id: rs121912563
• gnomAD v4: 4-148114132-A-G
• MyVariant Identifiers: chr4:g.149035283A>G (hg19) ; chr4:g.148114132A>G (hg38)
• PubMed: PMID:11134129

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