Canonical Allele Identifier: CA354055858

Gene: NR1I2

Linked Data

• gnomAD v4: 3-119807371-T-C
• MyVariant Identifiers: chr3:g.119526218T>C (hg19) ; chr3:g.119807371T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807371T>C , CM000665.2:g.119807371T>C	GRCh38
NC_000003.11:g.119526218T>C , CM000665.1:g.119526218T>C	GRCh37
NC_000003.10:g.121008908T>C	NCBI36
NG_011856.1:g.31888T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.121T>C MANE Select	ENSP00000377319.3:p.Cys41Arg
ENST00000466380.6:c.121T>C	ENSP00000420297.2:p.Cys41Arg
ENST00000648112.1:c.*144T>C	ENSP00000497876.1:n.*144T>C
ENST00000337940.4:c.238T>C	ENSP00000336528.4:p.Cys80Arg
ENST00000393716.6:c.121T>C	ENSP00000377319.2:p.Cys41Arg
ENST00000466380.5:c.121T>C	ENSP00000420297.1:p.Cys41Arg
ENST00000474090.1:n.409T>C
NM_003889.3:c.121T>C	NP_003880.3:p.Cys41Arg
NM_022002.2:c.238T>C	NP_071285.1:p.Cys80Arg
NM_033013.2:c.121T>C	NP_148934.1:p.Cys41Arg
NM_003889.4:c.121T>C MANE Select	NP_003880.3:p.Cys41Arg
NM_022002.3:c.238T>C	NP_071285.1:p.Cys80Arg
NM_033013.3:c.121T>C	NP_148934.1:p.Cys41Arg