Canonical Allele Identifier: CA81737860

Gene: NR1I2

Linked Data

• dbSNP Id: rs900072679
• gnomAD v2: 3-119502012-G-A
• gnomAD v3: 3-119783165-G-A
• gnomAD v4: 3-119783165-G-A
• MyVariant Identifiers: chr3:g.119502012G>A (hg19) ; chr3:g.119783165G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119783165G>A , CM000665.2:g.119783165G>A	GRCh38
NC_000003.11:g.119502012G>A , CM000665.1:g.119502012G>A	GRCh37
NC_000003.10:g.120984702G>A	NCBI36
NG_011856.1:g.7682G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000393716.8:c.-23+865G>A MANE Select	ENSP00000377319.3:n.-23+865G>A
ENST00000466380.6:c.-23+865G>A	ENSP00000420297.2:n.-23+865G>A
ENST00000648112.1:c.*2-24064G>A	ENSP00000497876.1:n.*2-24064G>A
ENST00000337940.4:c.95+313G>A	ENSP00000336528.4:n.95+313G>A
ENST00000393716.6:c.-23+865G>A	ENSP00000377319.2:n.-23+865G>A
ENST00000466380.5:c.-23+865G>A	ENSP00000420297.1:n.-23+865G>A
ENST00000474090.1:n.266+865G>A
NM_003889.3:c.-23+865G>A	NP_003880.3:n.-23+865G>A
NM_022002.2:c.95+313G>A	NP_071285.1:n.95+313G>A
NM_033013.2:c.-23+865G>A	NP_148934.1:n.-23+865G>A
NM_003889.4:c.-23+865G>A MANE Select	NP_003880.3:n.-23+865G>A
NM_022002.3:c.95+313G>A	NP_071285.1:n.95+313G>A
NM_033013.3:c.-23+865G>A	NP_148934.1:n.-23+865G>A