Canonical Allele Identifier: CA10620168

Gene: NR3C2

Linked Data

• ClinVar Variation Id: 347697
• ClinVar RCV Id: RCV000393170
• dbSNP Id: rs550508714
• gnomAD v3: 4-148079979-C-T
• gnomAD v4: 4-148079979-C-T
• MyVariant Identifiers: chr4:g.149001130C>T (hg19) ; chr4:g.148079979C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148079979C>T , CM000666.2:g.148079979C>T	GRCh38
NC_000004.11:g.149001130C>T , CM000666.1:g.149001130C>T	GRCh37
NC_000004.10:g.149220580C>T	NCBI36
NG_013350.1:g.367543G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358102.8:c.*1365G>A MANE Select	ENSP00000350815.3:n.*1365G>A
ENST00000344721.8:c.*1365G>A	ENSP00000341390.4:n.*1365G>A
ENST00000358102.7:c.*1365G>A	ENSP00000350815.3:n.*1365G>A
ENST00000625323.2:c.*1365G>A	ENSP00000486719.1:n.*1365G>A
NM_000901.4:c.*1365G>A	NP_000892.2:n.*1365G>A
NM_001166104.1:c.*1365G>A	NP_001159576.1:n.*1365G>A
XM_011531975.1:c.*1365G>A	XP_011530277.1:n.*1365G>A
XM_011531976.1:c.*1365G>A	XP_011530278.1:n.*1365G>A
XM_011531977.1:c.*1365G>A	XP_011530279.1:n.*1365G>A
NM_001354819.1:c.*1365G>A	NP_001341748.1:n.*1365G>A
NR_148974.1:n.4187G>A
NM_000901.5:c.*1365G>A MANE Select	NP_000892.2:n.*1365G>A
NM_001166104.2:c.*1365G>A	NP_001159576.1:n.*1365G>A
NR_148974.2:n.4081G>A