Canonical Allele Identifier: CA11417351
Gene: NR1I2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.119818050G>A
GRCh37 chr3:g.119536897G>A
gnomAD v2:
3:119536897 G / A
gnomAD v3:
3:119818050 G / A
gnomAD v4:
chr3-119818050-G-A
Joint Max Group AF 0.15754087 (NFE)
Genomes Max Group AF 0.14800202 (NFE)
Exomes Max Group AF 0.15820503 (NFE)
dbSNP:
1054191
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119818050G>A , CM000665.2:g.119818050G>A GRCh38
NC_000003.11:g.119536897G>A , CM000665.1:g.119536897G>A GRCh37
NC_000003.10:g.121019587G>A NCBI36
NG_011856.1:g.42567G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.*838G>A MANE Select ENSP00000377319.3:n.*838G>A
ENST00000466380.6:c.*838G>A ENSP00000420297.2:n.*838G>A
ENST00000337940.4:c.*838G>A ENSP00000336528.4:n.*838G>A
ENST00000393716.6:c.*838G>A ENSP00000377319.2:n.*838G>A
ENST00000466380.5:c.*838G>A ENSP00000420297.1:n.*838G>A
ENST00000493757.1:n.2275G>A
NM_003889.3:c.*838G>A NP_003880.3:n.*838G>A
NM_022002.2:c.*838G>A NP_071285.1:n.*838G>A
NM_033013.2:c.*838G>A NP_148934.1:n.*838G>A
NM_003889.4:c.*838G>A MANE Select NP_003880.3:n.*838G>A
NM_022002.3:c.*838G>A NP_071285.1:n.*838G>A
NM_033013.3:c.*838G>A NP_148934.1:n.*838G>A
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