Canonical Allele Identifier: CA12133941
Gene: NR3C1 HGNC NCBI
COSMIC:
COSN20492037 (not active)
MyVariant.info:
GRCh38 chr5:g.143416967A>G
GRCh37 chr5:g.142796532A>G
gnomAD v2:
5:142796532 A / G
gnomAD v3:
5:143416967 A / G
gnomAD v4:
chr5-143416967-A-G
Joint Max Group AF 0.5168154 (NFE)
Genomes Max Group AF 0.5168154 (NFE)
dbSNP:
4607376
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.143416967A>G , CM000667.2:g.143416967A>G GRCh38
NC_000005.9:g.142796532A>G , CM000667.1:g.142796532A>G GRCh37
NC_000005.8:g.142776725A>G NCBI36
NG_009062.1:g.23546T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343796.6:c.-13-16115T>C ENSP00000343205.2:n.-13-16115T>C
ENST00000503701.1:n.353-7728T>C
ENST00000504572.5:c.-13-16115T>C ENSP00000422518.1:n.-13-16115T>C
ENST00000505058.5:n.242-7728T>C
NM_001018074.1:c.-13-16115T>C NP_001018084.1:n.-13-16115T>C
NM_001018075.1:c.-13-16115T>C NP_001018085.1:n.-13-16115T>C
NM_001018077.1:c.-13-16115T>C NP_001018087.1:n.-13-16115T>C
XM_005268422.2:c.-13-16115T>C XP_005268479.1:n.-13-16115T>C
XM_005268422.3:c.-13-16115T>C XP_005268479.1:n.-13-16115T>C
NM_001364183.1:c.-13-16115T>C NP_001351112.1:n.-13-16115T>C
NM_001364183.2:c.-13-16115T>C NP_001351112.1:n.-13-16115T>C
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