Canonical Allele Identifier: CA3100448
Gene: NR3C2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.148436323C>T
GRCh37 chr4:g.149357475C>T
Revel Score:
ENST00000344721 0.138
ENST00000355292 0.138
ENST00000358102 (MANE Select) 0.138
ENST00000512865 0.138
ENST00000544252 0.138
ENST00000342437 0.138
ENST00000511528 0.138
gnomAD v2:
4:149357475 C / T
gnomAD v3:
4:148436323 C / T
gnomAD v4:
chr4-148436323-C-T
Joint Max Group AF 0.90390283 (MID)
Genomes Max Group AF 0.89916965 (AFR)
Exomes Max Group AF 0.90282903 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148436323C>T , CM000666.2:g.148436323C>T GRCh38
NC_000004.11:g.149357475C>T , CM000666.1:g.149357475C>T GRCh37
NC_000004.10:g.149576925C>T NCBI36
NG_013350.1:g.11198G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358102.8:c.538G>A MANE Select ENSP00000350815.3:p.Val180Ile
ENST00000342437.8:c.538G>A ENSP00000343907.4:p.Val180Ile
ENST00000344721.8:c.538G>A ENSP00000341390.4:p.Val180Ile
ENST00000358102.7:c.538G>A ENSP00000350815.3:p.Val180Ile
ENST00000511528.1:c.538G>A ENSP00000421481.1:p.Val180Ile
ENST00000512865.5:c.538G>A ENSP00000423510.1:p.Val180Ile
ENST00000625323.2:c.538G>A ENSP00000486719.1:p.Val180Ile
NM_000901.4:c.538G>A NP_000892.2:p.Val180Ile
NM_001166104.1:c.538G>A NP_001159576.1:p.Val180Ile
XM_011531975.1:c.538G>A XP_011530277.1:p.Val180Ile
XM_011531976.1:c.538G>A XP_011530278.1:p.Val180Ile
XM_011531977.1:c.538G>A XP_011530279.1:p.Val180Ile
XM_011531978.1:c.538G>A XP_011530280.1:p.Val180Ile
NM_001354819.1:c.538G>A NP_001341748.1:p.Val180Ile
NR_148974.1:n.901G>A
XM_011531978.2:c.538G>A XP_011530280.1:p.Val180Ile
NM_000901.5:c.538G>A MANE Select NP_000892.2:p.Val180Ile
NM_001166104.2:c.538G>A NP_001159576.1:p.Val180Ile
NR_148974.2:n.795G>A
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