Canonical Allele Identifier: CA3100387

Gene: NR3C2

Linked Data

• dbSNP Id: rs759125719
• ExAC: 4:149357085 C / G
• gnomAD v2: 4-149357085-C-G
• gnomAD v4: 4-148435933-C-G
• MyVariant Identifiers: chr4:g.149357085C>G (hg19) ; chr4:g.148435933C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148435933C>G , CM000666.2:g.148435933C>G	GRCh38
NC_000004.11:g.149357085C>G , CM000666.1:g.149357085C>G	GRCh37
NC_000004.10:g.149576535C>G	NCBI36
NG_013350.1:g.11588G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358102.8:c.928G>C MANE Select	ENSP00000350815.3:p.Val310Leu
ENST00000342437.8:c.928G>C	ENSP00000343907.4:p.Val310Leu
ENST00000344721.8:c.928G>C	ENSP00000341390.4:p.Val310Leu
ENST00000358102.7:c.928G>C	ENSP00000350815.3:p.Val310Leu
ENST00000511528.1:c.928G>C	ENSP00000421481.1:p.Val310Leu
ENST00000512865.5:c.928G>C	ENSP00000423510.1:p.Val310Leu
ENST00000625323.2:c.928G>C	ENSP00000486719.1:p.Val310Leu
NM_000901.4:c.928G>C	NP_000892.2:p.Val310Leu
NM_001166104.1:c.928G>C	NP_001159576.1:p.Val310Leu
XM_011531975.1:c.928G>C	XP_011530277.1:p.Val310Leu
XM_011531976.1:c.928G>C	XP_011530278.1:p.Val310Leu
XM_011531977.1:c.928G>C	XP_011530279.1:p.Val310Leu
XM_011531978.1:c.928G>C	XP_011530280.1:p.Val310Leu
NM_001354819.1:c.928G>C	NP_001341748.1:p.Val310Leu
NR_148974.1:n.1291G>C
XM_011531978.2:c.928G>C	XP_011530280.1:p.Val310Leu
NM_000901.5:c.928G>C MANE Select	NP_000892.2:p.Val310Leu
NM_001166104.2:c.928G>C	NP_001159576.1:p.Val310Leu
NR_148974.2:n.1185G>C