Canonical Allele Identifier: CA15361757
Gene: NR3C1 HGNC NCBI
COSMIC:
COSN14782477 (not active)
MyVariant.info:
GRCh38 chr5:g.143429382G>C
GRCh37 chr5:g.142808947G>C
gnomAD v2:
5:142808947 G / C
gnomAD v3:
5:143429382 G / C
gnomAD v4:
chr5-143429382-G-C
Joint Max Group AF 0.44897773 (NFE)
Genomes Max Group AF 0.44897773 (NFE)
dbSNP:
12656106
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.143429382G>C , CM000667.2:g.143429382G>C GRCh38
NC_000005.9:g.142808947G>C , CM000667.1:g.142808947G>C GRCh37
NC_000005.8:g.142789140G>C NCBI36
NG_009062.1:g.11131C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000343796.6:c.-14+5150C>G ENSP00000343205.2:n.-14+5150C>G
ENST00000503701.1:n.352+4337C>G
ENST00000504572.5:c.-14+4337C>G ENSP00000422518.1:n.-14+4337C>G
ENST00000505058.5:n.241+5150C>G
NM_001018074.1:c.-14+5822C>G NP_001018084.1:n.-14+5822C>G
NM_001018075.1:c.-14+5919C>G NP_001018085.1:n.-14+5919C>G
NM_001018077.1:c.-14+5150C>G NP_001018087.1:n.-14+5150C>G
XM_005268422.2:c.-14+5150C>G XP_005268479.1:n.-14+5150C>G
XM_005268422.3:c.-14+5150C>G XP_005268479.1:n.-14+5150C>G
NM_001364183.1:c.-14+4337C>G NP_001351112.1:n.-14+4337C>G
NM_001364183.2:c.-14+4337C>G NP_001351112.1:n.-14+4337C>G
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