Canonical Allele Identifier: CA2667141716

Gene: NR1I2

Linked Data

• gnomAD v4: 3-119807528-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807528C>A , CM000665.2:g.119807528C>A	GRCh38
NC_000003.11:g.119526375C>A , CM000665.1:g.119526375C>A	GRCh37
NC_000003.10:g.121009065C>A	NCBI36
NG_011856.1:g.32045C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.197+81C>A MANE Select	ENSP00000377319.3:n.197+81C>A
ENST00000466380.6:c.197+81C>A	ENSP00000420297.2:n.197+81C>A
ENST00000648112.1:c.*301C>A	ENSP00000497876.1:n.*301C>A
ENST00000337940.4:c.314+81C>A	ENSP00000336528.4:n.314+81C>A
ENST00000393716.6:c.197+81C>A	ENSP00000377319.2:n.197+81C>A
ENST00000466380.5:c.197+81C>A	ENSP00000420297.1:n.197+81C>A
ENST00000474090.1:n.485+81C>A
NM_003889.3:c.197+81C>A	NP_003880.3:n.197+81C>A
NM_022002.2:c.314+81C>A	NP_071285.1:n.314+81C>A
NM_033013.2:c.197+81C>A	NP_148934.1:n.197+81C>A
NM_003889.4:c.197+81C>A MANE Select	NP_003880.3:n.197+81C>A
NM_022002.3:c.314+81C>A	NP_071285.1:n.314+81C>A
NM_033013.3:c.197+81C>A	NP_148934.1:n.197+81C>A