Canonical Allele Identifier: CA361866982

Gene: NR3C1

Linked Data

• dbSNP Id: rs770476389
• gnomAD v2: 5-142780155-G-A
• gnomAD v4: 5-143400590-G-A
• MyVariant Identifiers: chr5:g.142780155G>A (hg19) ; chr5:g.143400590G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.143400590G>A , CM000667.2:g.143400590G>A	GRCh38
NC_000005.9:g.142780155G>A , CM000667.1:g.142780155G>A	GRCh37
NC_000005.8:g.142760348G>A	NCBI36
NG_009062.1:g.39923C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394464.7:c.250C>T MANE Select	ENSP00000377977.2:p.Leu84Phe
ENST00000652686.1:c.250C>T	ENSP00000498663.1:p.Leu84Phe
ENST00000231509.7:c.250C>T	ENSP00000231509.3:p.Leu84Phe
ENST00000343796.6:c.250C>T	ENSP00000343205.2:p.Leu84Phe
ENST00000394464.6:c.250C>T	ENSP00000377977.2:p.Leu84Phe
ENST00000394466.6:c.250C>T	ENSP00000377979.2:p.Leu84Phe
ENST00000415690.6:c.250C>T	ENSP00000387672.2:p.Leu84Phe
ENST00000424646.6:c.250C>T	ENSP00000405282.2:p.Leu84Phe
ENST00000502500.1:c.250C>T	ENSP00000425374.1:p.Leu84Phe
ENST00000502892.5:c.250C>T	ENSP00000420856.1:p.Leu84Phe
ENST00000503201.1:c.250C>T	ENSP00000427672.1:p.Leu84Phe
ENST00000504572.5:c.250C>T	ENSP00000422518.1:p.Leu84Phe
ENST00000508760.5:c.250C>T	ENSP00000425313.1:p.Leu84Phe
ENST00000510170.5:c.250C>T	ENSP00000424747.1:p.Leu84Phe
ENST00000514699.1:c.250C>T	ENSP00000426478.1:p.Leu84Phe
NM_000176.2:c.250C>T	NP_000167.1:p.Leu84Phe
NM_001018074.1:c.250C>T	NP_001018084.1:p.Leu84Phe
NM_001018075.1:c.250C>T	NP_001018085.1:p.Leu84Phe
NM_001018076.1:c.250C>T	NP_001018086.1:p.Leu84Phe
NM_001018077.1:c.250C>T	NP_001018087.1:p.Leu84Phe
NM_001020825.1:c.250C>T	NP_001018661.1:p.Leu84Phe
NM_001024094.1:c.250C>T	NP_001019265.1:p.Leu84Phe
NM_001204258.1:c.172C>T	NP_001191187.1:p.Leu58Phe
NM_001204259.1:c.-6C>T	NP_001191188.1:n.-6C>T
NM_001204260.1:c.-18C>T	NP_001191189.1:n.-18C>T
NM_001204261.1:c.-42C>T	NP_001191190.1:n.-42C>T
NM_001204262.1:c.-696C>T	NP_001191191.1:n.-696C>T
NM_001204263.1:c.-741C>T	NP_001191192.1:n.-741C>T
NM_001204264.1:c.-756C>T	NP_001191193.1:n.-756C>T
NM_001204265.1:c.250C>T	NP_001191194.1:p.Leu84Phe
XM_005268419.2:c.250C>T	XP_005268476.1:p.Leu84Phe
XM_005268420.3:c.250C>T	XP_005268477.1:p.Leu84Phe
XM_005268422.2:c.250C>T	XP_005268479.1:p.Leu84Phe
XM_005268423.2:c.250C>T	XP_005268480.1:p.Leu84Phe
XM_011537636.1:c.250C>T	XP_011535938.1:p.Leu84Phe
NR_157096.1:n.107+3786C>T
XM_005268419.4:c.250C>T	XP_005268476.1:p.Leu84Phe
XM_005268420.4:c.250C>T	XP_005268477.1:p.Leu84Phe
XM_005268422.3:c.250C>T	XP_005268479.1:p.Leu84Phe
XM_005268423.3:c.250C>T	XP_005268480.1:p.Leu84Phe
XM_017009397.1:c.250C>T	XP_016864886.1:p.Leu84Phe
XM_017009398.1:c.250C>T	XP_016864887.1:p.Leu84Phe
NM_000176.3:c.250C>T MANE Select	NP_000167.1:p.Leu84Phe
NM_001364180.1:c.250C>T	NP_001351109.1:p.Leu84Phe
NM_001364181.1:c.250C>T	NP_001351110.1:p.Leu84Phe
NM_001364182.1:c.250C>T	NP_001351111.1:p.Leu84Phe
NM_001364183.1:c.250C>T	NP_001351112.1:p.Leu84Phe
NM_001364184.1:c.250C>T	NP_001351113.1:p.Leu84Phe
NM_001364185.1:c.250C>T	NP_001351114.1:p.Leu84Phe
NM_001018076.2:c.250C>T	NP_001018086.1:p.Leu84Phe
NM_001020825.2:c.250C>T	NP_001018661.1:p.Leu84Phe
NM_001024094.2:c.250C>T	NP_001019265.1:p.Leu84Phe
NM_001204258.2:c.172C>T	NP_001191187.1:p.Leu58Phe
NM_001204259.2:c.-6C>T	NP_001191188.1:n.-6C>T
NM_001204260.2:c.-18C>T	NP_001191189.1:n.-18C>T
NM_001204261.2:c.-42C>T	NP_001191190.1:n.-42C>T
NM_001204262.2:c.-696C>T	NP_001191191.1:n.-696C>T
NM_001204263.2:c.-741C>T	NP_001191192.1:n.-741C>T
NM_001204264.2:c.-756C>T	NP_001191193.1:n.-756C>T
NM_001204265.2:c.250C>T	NP_001191194.1:p.Leu84Phe
NM_001364180.2:c.250C>T	NP_001351109.1:p.Leu84Phe
NM_001364181.2:c.250C>T	NP_001351110.1:p.Leu84Phe
NM_001364183.2:c.250C>T	NP_001351112.1:p.Leu84Phe
NM_001364184.2:c.250C>T	NP_001351113.1:p.Leu84Phe
NR_157096.2:n.107+3786C>T