Canonical Allele Identifier: CA11417351
Gene: NR1I2 HGNC NCBI

Linked Data

dbSNP Id: rs1054191
gnomAD v2: 3-119536897-G-A
gnomAD v3: 3-119818050-G-A
gnomAD v4: 3-119818050-G-A
MyVariant Identifiers: chr3:g.119536897G>A (hg19) chr3:g.119818050G>A (hg38)
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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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