Canonical Allele Identifier: CA3099997

Gene: NR3C2

Linked Data

• dbSNP Id: rs766065448
• ExAC: 4:149002520 T / C
• gnomAD v2: 4-149002520-T-C
• gnomAD v3: 4-148081369-T-C
• gnomAD v4: 4-148081369-T-C
• MyVariant Identifiers: chr4:g.149002520T>C (hg19) ; chr4:g.148081369T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148081369T>C , CM000666.2:g.148081369T>C	GRCh38
NC_000004.11:g.149002520T>C , CM000666.1:g.149002520T>C	GRCh37
NC_000004.10:g.149221970T>C	NCBI36
NG_013350.1:g.366153A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000358102.8:c.2930A>G MANE Select	ENSP00000350815.3:p.Lys977Arg
ENST00000342437.8:c.*313A>G	ENSP00000343907.4:n.*313A>G
ENST00000344721.8:c.2930A>G	ENSP00000341390.4:p.Lys977Arg
ENST00000358102.7:c.2930A>G	ENSP00000350815.3:p.Lys977Arg
ENST00000511528.1:c.2942A>G	ENSP00000421481.1:p.Lys981Arg
ENST00000512865.5:c.2579A>G	ENSP00000423510.1:p.Lys860Arg
ENST00000625323.2:c.2942A>G	ENSP00000486719.1:p.Lys981Arg
NM_000901.4:c.2930A>G	NP_000892.2:p.Lys977Arg
NM_001166104.1:c.2579A>G	NP_001159576.1:p.Lys860Arg
XM_011531975.1:c.2942A>G	XP_011530277.1:p.Lys981Arg
XM_011531976.1:c.2942A>G	XP_011530278.1:p.Lys981Arg
XM_011531977.1:c.2942A>G	XP_011530279.1:p.Lys981Arg
NM_001354819.1:c.2579A>G	NP_001341748.1:p.Lys860Arg
NR_148974.1:n.2797A>G
NM_000901.5:c.2930A>G MANE Select	NP_000892.2:p.Lys977Arg
NM_001166104.2:c.2579A>G	NP_001159576.1:p.Lys860Arg
NR_148974.2:n.2691A>G