Canonical Allele Identifier: CA354058282

Gene: NR1I2

Linked Data

• gnomAD v4: 3-119811648-G-T
• MyVariant Identifiers: chr3:g.119530495G>T (hg19) ; chr3:g.119811648G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119811648G>T , CM000665.2:g.119811648G>T	GRCh38
NC_000003.11:g.119530495G>T , CM000665.1:g.119530495G>T	GRCh37
NC_000003.10:g.121013185G>T	NCBI36
NG_011856.1:g.36165G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.441G>T MANE Select	ENSP00000377319.3:p.Gln147His
ENST00000466380.6:c.441G>T	ENSP00000420297.2:p.Gln147His
ENST00000337940.4:c.558G>T	ENSP00000336528.4:p.Gln186His
ENST00000393716.6:c.441G>T	ENSP00000377319.2:p.Gln147His
ENST00000466380.5:c.441G>T	ENSP00000420297.1:p.Gln147His
ENST00000493757.1:n.573G>T
NM_003889.3:c.441G>T	NP_003880.3:p.Gln147His
NM_022002.2:c.558G>T	NP_071285.1:p.Gln186His
NM_033013.2:c.441G>T	NP_148934.1:p.Gln147His
NM_003889.4:c.441G>T MANE Select	NP_003880.3:p.Gln147His
NM_022002.3:c.558G>T	NP_071285.1:p.Gln186His
NM_033013.3:c.441G>T	NP_148934.1:p.Gln147His