Canonical Allele Identifier: CA126236
Gene: NR3C1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16156
ClinVar RCV Id: RCV000017539
dbSNP Id: rs104893913

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.143310135C>T , CM000667.2:g.143310135C>T GRCh38
NC_000005.9:g.142689700C>T , CM000667.1:g.142689700C>T GRCh37
NC_000005.8:g.142669893C>T NCBI36
NG_009062.1:g.130378G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000394464.7:c.1430G>A MANE Select ENSP00000377977.2:p.Arg477His
ENST00000652686.1:c.1430G>A ENSP00000498663.1:p.Arg477His
ENST00000231509.7:c.1433G>A ENSP00000231509.3:p.Arg478His
ENST00000343796.6:c.1430G>A ENSP00000343205.2:p.Arg477His
ENST00000394464.6:c.1430G>A ENSP00000377977.2:p.Arg477His
ENST00000394466.6:c.1433G>A ENSP00000377979.2:p.Arg478His
ENST00000415690.6:c.1430G>A ENSP00000387672.2:p.Arg477His
ENST00000424646.6:c.1352G>A ENSP00000405282.2:p.Arg451His
ENST00000503201.1:c.1430G>A ENSP00000427672.1:p.Arg477His
ENST00000504336.1:n.370G>A
ENST00000504572.5:c.1433G>A ENSP00000422518.1:p.Arg478His
NM_000176.2:c.1430G>A NP_000167.1:p.Arg477His
NM_001018074.1:c.1430G>A NP_001018084.1:p.Arg477His
NM_001018075.1:c.1430G>A NP_001018085.1:p.Arg477His
NM_001018076.1:c.1430G>A NP_001018086.1:p.Arg477His
NM_001018077.1:c.1430G>A NP_001018087.1:p.Arg477His
NM_001020825.1:c.1430G>A NP_001018661.1:p.Arg477His
NM_001024094.1:c.1433G>A NP_001019265.1:p.Arg478His
NM_001204258.1:c.1352G>A NP_001191187.1:p.Arg451His
NM_001204259.1:c.1175G>A NP_001191188.1:p.Arg392His
NM_001204260.1:c.1163G>A NP_001191189.1:p.Arg388His
NM_001204261.1:c.1139G>A NP_001191190.1:p.Arg380His
NM_001204262.1:c.485G>A NP_001191191.1:p.Arg162His
NM_001204263.1:c.440G>A NP_001191192.1:p.Arg147His
NM_001204264.1:c.425G>A NP_001191193.1:p.Arg142His
NM_001204265.1:c.1430G>A NP_001191194.1:p.Arg477His
XM_005268419.2:c.1433G>A XP_005268476.1:p.Arg478His
XM_005268420.3:c.1433G>A XP_005268477.1:p.Arg478His
XM_005268422.2:c.1433G>A XP_005268479.1:p.Arg478His
XM_005268423.2:c.1433G>A XP_005268480.1:p.Arg478His
XM_011537637.1:c.239G>A XP_011535939.1:p.Arg80His
NR_157096.1:n.353G>A
XM_005268419.4:c.1433G>A XP_005268476.1:p.Arg478His
XM_005268420.4:c.1433G>A XP_005268477.1:p.Arg478His
XM_005268422.3:c.1433G>A XP_005268479.1:p.Arg478His
XM_005268423.3:c.1433G>A XP_005268480.1:p.Arg478His
XM_011537637.3:c.239G>A XP_011535939.1:p.Arg80His
XM_017009397.1:c.1430G>A XP_016864886.1:p.Arg477His
XM_017009398.1:c.1430G>A XP_016864887.1:p.Arg477His
NM_000176.3:c.1430G>A MANE Select NP_000167.1:p.Arg477His
NM_001364180.1:c.1430G>A NP_001351109.1:p.Arg477His
NM_001364181.1:c.1430G>A NP_001351110.1:p.Arg477His
NM_001364182.1:c.1430G>A NP_001351111.1:p.Arg477His
NM_001364183.1:c.1433G>A NP_001351112.1:p.Arg478His
NM_001364184.1:c.1433G>A NP_001351113.1:p.Arg478His
NM_001364185.1:c.1433G>A NP_001351114.1:p.Arg478His
NM_001018076.2:c.1430G>A NP_001018086.1:p.Arg477His
NM_001020825.2:c.1430G>A NP_001018661.1:p.Arg477His
NM_001024094.2:c.1433G>A NP_001019265.1:p.Arg478His
NM_001204258.2:c.1352G>A NP_001191187.1:p.Arg451His
NM_001204259.2:c.1175G>A NP_001191188.1:p.Arg392His
NM_001204260.2:c.1163G>A NP_001191189.1:p.Arg388His
NM_001204261.2:c.1139G>A NP_001191190.1:p.Arg380His
NM_001204262.2:c.485G>A NP_001191191.1:p.Arg162His
NM_001204263.2:c.440G>A NP_001191192.1:p.Arg147His
NM_001204264.2:c.425G>A NP_001191193.1:p.Arg142His
NM_001204265.2:c.1430G>A NP_001191194.1:p.Arg477His
NM_001364180.2:c.1430G>A NP_001351109.1:p.Arg477His
NM_001364181.2:c.1430G>A NP_001351110.1:p.Arg477His
NM_001364183.2:c.1433G>A NP_001351112.1:p.Arg478His
NM_001364184.2:c.1433G>A NP_001351113.1:p.Arg478His
NR_157096.2:n.353G>A