Canonical Allele Identifier: CA358425209

Gene: NR3C2

Linked Data

• ClinVar Variation Id: 2903639
• ClinVar RCV Id: RCV003726828
• dbSNP Id: rs1313773823
• gnomAD v4: 4-148081366-G-A
• MyVariant Identifiers: chr4:g.149002517G>A (hg19) ; chr4:g.148081366G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148081366G>A , CM000666.2:g.148081366G>A	GRCh38
NC_000004.11:g.149002517G>A , CM000666.1:g.149002517G>A	GRCh37
NC_000004.10:g.149221967G>A	NCBI36
NG_013350.1:g.366156C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000358102.8:c.2933C>T MANE Select	ENSP00000350815.3:p.Pro978Leu
ENST00000342437.8:c.*316C>T	ENSP00000343907.4:n.*316C>T
ENST00000344721.8:c.2933C>T	ENSP00000341390.4:p.Pro978Leu
ENST00000358102.7:c.2933C>T	ENSP00000350815.3:p.Pro978Leu
ENST00000511528.1:c.2945C>T	ENSP00000421481.1:p.Pro982Leu
ENST00000512865.5:c.2582C>T	ENSP00000423510.1:p.Pro861Leu
ENST00000625323.2:c.2945C>T	ENSP00000486719.1:p.Pro982Leu
NM_000901.4:c.2933C>T	NP_000892.2:p.Pro978Leu
NM_001166104.1:c.2582C>T	NP_001159576.1:p.Pro861Leu
XM_011531975.1:c.2945C>T	XP_011530277.1:p.Pro982Leu
XM_011531976.1:c.2945C>T	XP_011530278.1:p.Pro982Leu
XM_011531977.1:c.2945C>T	XP_011530279.1:p.Pro982Leu
NM_001354819.1:c.2582C>T	NP_001341748.1:p.Pro861Leu
NR_148974.1:n.2800C>T
NM_000901.5:c.2933C>T MANE Select	NP_000892.2:p.Pro978Leu
NM_001166104.2:c.2582C>T	NP_001159576.1:p.Pro861Leu
NR_148974.2:n.2694C>T