Canonical Allele Identifier: CA3486876

Gene: NR3C1

Linked Data

• ClinVar Variation Id: 2140433
• ClinVar RCV Id: RCV003056448
• dbSNP Id: rs375997809
• ExAC: 5:142689762 T / C
• gnomAD v2: 5-142689762-T-C
• gnomAD v3: 5-143310197-T-C
• gnomAD v4: 5-143310197-T-C
• MyVariant Identifiers: chr5:g.142689762T>C (hg19) ; chr5:g.143310197T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.143310197T>C , CM000667.2:g.143310197T>C	GRCh38
NC_000005.9:g.142689762T>C , CM000667.1:g.142689762T>C	GRCh37
NC_000005.8:g.142669955T>C	NCBI36
NG_009062.1:g.130316A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394464.7:c.1368A>G MANE Select	ENSP00000377977.2:p.Leu456=
ENST00000652686.1:c.1368A>G	ENSP00000498663.1:p.Leu456=
ENST00000231509.7:c.1371A>G	ENSP00000231509.3:p.Leu457=
ENST00000343796.6:c.1368A>G	ENSP00000343205.2:p.Leu456=
ENST00000394464.6:c.1368A>G	ENSP00000377977.2:p.Leu456=
ENST00000394466.6:c.1371A>G	ENSP00000377979.2:p.Leu457=
ENST00000415690.6:c.1368A>G	ENSP00000387672.2:p.Leu456=
ENST00000424646.6:c.1290A>G	ENSP00000405282.2:p.Leu430=
ENST00000503201.1:c.1368A>G	ENSP00000427672.1:p.Leu456=
ENST00000504336.1:n.308A>G
ENST00000504572.5:c.1371A>G	ENSP00000422518.1:p.Leu457=
NM_000176.2:c.1368A>G	NP_000167.1:p.Leu456=
NM_001018074.1:c.1368A>G	NP_001018084.1:p.Leu456=
NM_001018075.1:c.1368A>G	NP_001018085.1:p.Leu456=
NM_001018076.1:c.1368A>G	NP_001018086.1:p.Leu456=
NM_001018077.1:c.1368A>G	NP_001018087.1:p.Leu456=
NM_001020825.1:c.1368A>G	NP_001018661.1:p.Leu456=
NM_001024094.1:c.1371A>G	NP_001019265.1:p.Leu457=
NM_001204258.1:c.1290A>G	NP_001191187.1:p.Leu430=
NM_001204259.1:c.1113A>G	NP_001191188.1:p.Leu371=
NM_001204260.1:c.1101A>G	NP_001191189.1:p.Leu367=
NM_001204261.1:c.1077A>G	NP_001191190.1:p.Leu359=
NM_001204262.1:c.423A>G	NP_001191191.1:p.Leu141=
NM_001204263.1:c.378A>G	NP_001191192.1:p.Leu126=
NM_001204264.1:c.363A>G	NP_001191193.1:p.Leu121=
NM_001204265.1:c.1368A>G	NP_001191194.1:p.Leu456=
XM_005268419.2:c.1371A>G	XP_005268476.1:p.Leu457=
XM_005268420.3:c.1371A>G	XP_005268477.1:p.Leu457=
XM_005268422.2:c.1371A>G	XP_005268479.1:p.Leu457=
XM_005268423.2:c.1371A>G	XP_005268480.1:p.Leu457=
XM_011537637.1:c.177A>G	XP_011535939.1:p.Leu59=
NR_157096.1:n.291A>G
XM_005268419.4:c.1371A>G	XP_005268476.1:p.Leu457=
XM_005268420.4:c.1371A>G	XP_005268477.1:p.Leu457=
XM_005268422.3:c.1371A>G	XP_005268479.1:p.Leu457=
XM_005268423.3:c.1371A>G	XP_005268480.1:p.Leu457=
XM_011537637.3:c.177A>G	XP_011535939.1:p.Leu59=
XM_017009397.1:c.1368A>G	XP_016864886.1:p.Leu456=
XM_017009398.1:c.1368A>G	XP_016864887.1:p.Leu456=
NM_000176.3:c.1368A>G MANE Select	NP_000167.1:p.Leu456=
NM_001364180.1:c.1368A>G	NP_001351109.1:p.Leu456=
NM_001364181.1:c.1368A>G	NP_001351110.1:p.Leu456=
NM_001364182.1:c.1368A>G	NP_001351111.1:p.Leu456=
NM_001364183.1:c.1371A>G	NP_001351112.1:p.Leu457=
NM_001364184.1:c.1371A>G	NP_001351113.1:p.Leu457=
NM_001364185.1:c.1371A>G	NP_001351114.1:p.Leu457=
NM_001018076.2:c.1368A>G	NP_001018086.1:p.Leu456=
NM_001020825.2:c.1368A>G	NP_001018661.1:p.Leu456=
NM_001024094.2:c.1371A>G	NP_001019265.1:p.Leu457=
NM_001204258.2:c.1290A>G	NP_001191187.1:p.Leu430=
NM_001204259.2:c.1113A>G	NP_001191188.1:p.Leu371=
NM_001204260.2:c.1101A>G	NP_001191189.1:p.Leu367=
NM_001204261.2:c.1077A>G	NP_001191190.1:p.Leu359=
NM_001204262.2:c.423A>G	NP_001191191.1:p.Leu141=
NM_001204263.2:c.378A>G	NP_001191192.1:p.Leu126=
NM_001204264.2:c.363A>G	NP_001191193.1:p.Leu121=
NM_001204265.2:c.1368A>G	NP_001191194.1:p.Leu456=
NM_001364180.2:c.1368A>G	NP_001351109.1:p.Leu456=
NM_001364181.2:c.1368A>G	NP_001351110.1:p.Leu456=
NM_001364183.2:c.1371A>G	NP_001351112.1:p.Leu457=
NM_001364184.2:c.1371A>G	NP_001351113.1:p.Leu457=
NR_157096.2:n.291A>G