Canonical Allele Identifier: CA354055382

Gene: NR1I2

Linked Data

• dbSNP Id: rs1559788488
• gnomAD v4: 3-119807248-A-C
• MyVariant Identifiers: chr3:g.119526095A>C (hg19) ; chr3:g.119807248A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807248A>C , CM000665.2:g.119807248A>C	GRCh38
NC_000003.11:g.119526095A>C , CM000665.1:g.119526095A>C	GRCh37
NC_000003.10:g.121008785A>C	NCBI36
NG_011856.1:g.31765A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.-3A>C MANE Select	ENSP00000377319.3:n.-3A>C
ENST00000466380.6:c.-3A>C	ENSP00000420297.2:n.-3A>C
ENST00000648112.1:c.*21A>C	ENSP00000497876.1:n.*21A>C
ENST00000337940.4:c.115A>C	ENSP00000336528.4:p.Asn39His
ENST00000393716.6:c.-3A>C	ENSP00000377319.2:n.-3A>C
ENST00000466380.5:c.-3A>C	ENSP00000420297.1:n.-3A>C
ENST00000474090.1:n.286A>C
NM_003889.3:c.-3A>C	NP_003880.3:n.-3A>C
NM_022002.2:c.115A>C	NP_071285.1:p.Asn39His
NM_033013.2:c.-3A>C	NP_148934.1:n.-3A>C
NM_003889.4:c.-3A>C MANE Select	NP_003880.3:n.-3A>C
NM_022002.3:c.115A>C	NP_071285.1:p.Asn39His
NM_033013.3:c.-3A>C	NP_148934.1:n.-3A>C