Canonical Allele Identifier: CA81754704

Gene: NR1I2

Linked Data

• dbSNP Id: rs185946310
• gnomAD v2: 3-119536490-C-T
• gnomAD v3: 3-119817643-C-T
• gnomAD v4: 3-119817643-C-T
• MyVariant Identifiers: chr3:g.119536490C>T (hg19) ; chr3:g.119817643C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119817643C>T , CM000665.2:g.119817643C>T	GRCh38
NC_000003.11:g.119536490C>T , CM000665.1:g.119536490C>T	GRCh37
NC_000003.10:g.121019180C>T	NCBI36
NG_011856.1:g.42160C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393716.8:c.*431C>T MANE Select	ENSP00000377319.3:n.*431C>T
ENST00000466380.6:c.*431C>T	ENSP00000420297.2:n.*431C>T
ENST00000337940.4:c.*431C>T	ENSP00000336528.4:n.*431C>T
ENST00000393716.6:c.*431C>T	ENSP00000377319.2:n.*431C>T
ENST00000466380.5:c.*431C>T	ENSP00000420297.1:n.*431C>T
ENST00000493757.1:n.1868C>T
NM_003889.3:c.*431C>T	NP_003880.3:n.*431C>T
NM_022002.2:c.*431C>T	NP_071285.1:n.*431C>T
NM_033013.2:c.*431C>T	NP_148934.1:n.*431C>T
NM_003889.4:c.*431C>T MANE Select	NP_003880.3:n.*431C>T
NM_022002.3:c.*431C>T	NP_071285.1:n.*431C>T
NM_033013.3:c.*431C>T	NP_148934.1:n.*431C>T