Canonical Allele Identifier: CA2557736

Gene: NR1I2

Linked Data

• dbSNP Id: rs533429053
• ExAC: 3:119526215 A / T
• gnomAD v2: 3-119526215-A-T
• gnomAD v3: 3-119807368-A-T
• gnomAD v4: 3-119807368-A-T
• MyVariant Identifiers: chr3:g.119526215A>T (hg19) ; chr3:g.119807368A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807368A>T , CM000665.2:g.119807368A>T	GRCh38
NC_000003.11:g.119526215A>T , CM000665.1:g.119526215A>T	GRCh37
NC_000003.10:g.121008905A>T	NCBI36
NG_011856.1:g.31885A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393716.8:c.118A>T MANE Select	ENSP00000377319.3:p.Ile40Phe
ENST00000466380.6:c.118A>T	ENSP00000420297.2:p.Ile40Phe
ENST00000648112.1:c.*141A>T	ENSP00000497876.1:n.*141A>T
ENST00000337940.4:c.235A>T	ENSP00000336528.4:p.Ile79Phe
ENST00000393716.6:c.118A>T	ENSP00000377319.2:p.Ile40Phe
ENST00000466380.5:c.118A>T	ENSP00000420297.1:p.Ile40Phe
ENST00000474090.1:n.406A>T
NM_003889.3:c.118A>T	NP_003880.3:p.Ile40Phe
NM_022002.2:c.235A>T	NP_071285.1:p.Ile79Phe
NM_033013.2:c.118A>T	NP_148934.1:p.Ile40Phe
NM_003889.4:c.118A>T MANE Select	NP_003880.3:p.Ile40Phe
NM_022002.3:c.235A>T	NP_071285.1:p.Ile79Phe
NM_033013.3:c.118A>T	NP_148934.1:p.Ile40Phe