Canonical Allele Identifier: CA81737864

Gene: NR1I2

Linked Data

• dbSNP Id: rs895278415
• gnomAD v2: 3-119502017-T-C
• gnomAD v3: 3-119783170-T-C
• gnomAD v4: 3-119783170-T-C
• MyVariant Identifiers: chr3:g.119502017T>C (hg19) ; chr3:g.119783170T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119783170T>C , CM000665.2:g.119783170T>C	GRCh38
NC_000003.11:g.119502017T>C , CM000665.1:g.119502017T>C	GRCh37
NC_000003.10:g.120984707T>C	NCBI36
NG_011856.1:g.7687T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393716.8:c.-23+870T>C MANE Select	ENSP00000377319.3:n.-23+870T>C
ENST00000466380.6:c.-23+870T>C	ENSP00000420297.2:n.-23+870T>C
ENST00000648112.1:c.*2-24059T>C	ENSP00000497876.1:n.*2-24059T>C
ENST00000337940.4:c.95+318T>C	ENSP00000336528.4:n.95+318T>C
ENST00000393716.6:c.-23+870T>C	ENSP00000377319.2:n.-23+870T>C
ENST00000466380.5:c.-23+870T>C	ENSP00000420297.1:n.-23+870T>C
ENST00000474090.1:n.266+870T>C
NM_003889.3:c.-23+870T>C	NP_003880.3:n.-23+870T>C
NM_022002.2:c.95+318T>C	NP_071285.1:n.95+318T>C
NM_033013.2:c.-23+870T>C	NP_148934.1:n.-23+870T>C
NM_003889.4:c.-23+870T>C MANE Select	NP_003880.3:n.-23+870T>C
NM_022002.3:c.95+318T>C	NP_071285.1:n.95+318T>C
NM_033013.3:c.-23+870T>C	NP_148934.1:n.-23+870T>C