Canonical Allele Identifier: CA16243991
Gene: NR3C1 HGNC NCBI
COSMIC:
COSN14792807 (not active)
MyVariant.info:
GRCh38 chr5:g.143427467G>A
GRCh37 chr5:g.142807032G>A
gnomAD v2:
5:142807032 G / A
gnomAD v3:
5:143427467 G / A
gnomAD v4:
chr5-143427467-G-A
Joint Max Group AF 0.65997537 (NFE)
Genomes Max Group AF 0.65997537 (NFE)
dbSNP:
4912911
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.143427467G>A , CM000667.2:g.143427467G>A GRCh38
NC_000005.9:g.142807032G>A , CM000667.1:g.142807032G>A GRCh37
NC_000005.8:g.142787225G>A NCBI36
NG_009062.1:g.13046C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343796.6:c.-14+7065C>T ENSP00000343205.2:n.-14+7065C>T
ENST00000503701.1:n.352+6252C>T
ENST00000504572.5:c.-14+6252C>T ENSP00000422518.1:n.-14+6252C>T
ENST00000505058.5:n.241+7065C>T
NM_001018074.1:c.-14+7737C>T NP_001018084.1:n.-14+7737C>T
NM_001018075.1:c.-14+7834C>T NP_001018085.1:n.-14+7834C>T
NM_001018077.1:c.-14+7065C>T NP_001018087.1:n.-14+7065C>T
XM_005268422.2:c.-14+7065C>T XP_005268479.1:n.-14+7065C>T
XM_005268422.3:c.-14+7065C>T XP_005268479.1:n.-14+7065C>T
NM_001364183.1:c.-14+6252C>T NP_001351112.1:n.-14+6252C>T
NM_001364183.2:c.-14+6252C>T NP_001351112.1:n.-14+6252C>T
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