Canonical Allele Identifier: CA2667144391

Gene: NR1I2

Linked Data

• gnomAD v4: 3-119817742-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119817742T>C , CM000665.2:g.119817742T>C	GRCh38
NC_000003.11:g.119536589T>C , CM000665.1:g.119536589T>C	GRCh37
NC_000003.10:g.121019279T>C	NCBI36
NG_011856.1:g.42259T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393716.8:c.*530T>C MANE Select	ENSP00000377319.3:n.*530T>C
ENST00000466380.6:c.*530T>C	ENSP00000420297.2:n.*530T>C
ENST00000337940.4:c.*530T>C	ENSP00000336528.4:n.*530T>C
ENST00000393716.6:c.*530T>C	ENSP00000377319.2:n.*530T>C
ENST00000466380.5:c.*530T>C	ENSP00000420297.1:n.*530T>C
ENST00000493757.1:n.1967T>C
NM_003889.3:c.*530T>C	NP_003880.3:n.*530T>C
NM_022002.2:c.*530T>C	NP_071285.1:n.*530T>C
NM_033013.2:c.*530T>C	NP_148934.1:n.*530T>C
NM_003889.4:c.*530T>C MANE Select	NP_003880.3:n.*530T>C
NM_022002.3:c.*530T>C	NP_071285.1:n.*530T>C
NM_033013.3:c.*530T>C	NP_148934.1:n.*530T>C