Canonical Allele Identifier: CA10617198

Gene: NR3C2

Linked Data

• ClinVar Variation Id: 347745
• ClinVar RCV Id: RCV000290984
• dbSNP Id: rs886059133
• gnomAD v2: 4-149363558-G-A
• gnomAD v3: 4-148442406-G-A
• gnomAD v4: 4-148442406-G-A
• MyVariant Identifiers: chr4:g.149363558G>A (hg19) ; chr4:g.148442406G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148442406G>A , CM000666.2:g.148442406G>A	GRCh38
NC_000004.11:g.149363558G>A , CM000666.1:g.149363558G>A	GRCh37
NC_000004.10:g.149583008G>A	NCBI36
NG_013350.1:g.5115C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000358102.8:c.-249C>T MANE Select	ENSP00000350815.3:n.-249C>T
ENST00000344721.8:c.-3+2120C>T	ENSP00000341390.4:n.-3+2120C>T
ENST00000358102.7:c.-249C>T	ENSP00000350815.3:n.-249C>T
ENST00000625323.2:c.-249C>T	ENSP00000486719.1:n.-249C>T
NM_000901.4:c.-249C>T	NP_000892.2:n.-249C>T
NM_001166104.1:c.-249C>T	NP_001159576.1:n.-249C>T
XM_011531975.1:c.-249C>T	XP_011530277.1:n.-249C>T
XM_011531976.1:c.-3+2120C>T	XP_011530278.1:n.-3+2120C>T
XM_011531977.1:c.-3+2794C>T	XP_011530279.1:n.-3+2794C>T
XM_011531978.1:c.-249C>T	XP_011530280.1:n.-249C>T
NM_001354819.1:c.-3+2120C>T	NP_001341748.1:n.-3+2120C>T
NR_148974.1:n.115C>T
XM_011531978.2:c.-249C>T	XP_011530280.1:n.-249C>T
NM_000901.5:c.-249C>T MANE Select	NP_000892.2:n.-249C>T
NM_001166104.2:c.-249C>T	NP_001159576.1:n.-249C>T
NR_148974.2:n.9C>T