Canonical Allele Identifier: CA435219540

Gene: NR1I2

Linked Data

• dbSNP Id: rs1371669965
• gnomAD v2: 3-119526220-C-T
• gnomAD v4: 3-119807373-C-T
• MyVariant Identifiers: chr3:g.119526220C>T (hg19) ; chr3:g.119807373C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807373C>T , CM000665.2:g.119807373C>T	GRCh38
NC_000003.11:g.119526220C>T , CM000665.1:g.119526220C>T	GRCh37
NC_000003.10:g.121008910C>T	NCBI36
NG_011856.1:g.31890C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.123C>T MANE Select	ENSP00000377319.3:p.Cys41=
ENST00000466380.6:c.123C>T	ENSP00000420297.2:p.Cys41=
ENST00000648112.1:c.*146C>T	ENSP00000497876.1:n.*146C>T
ENST00000337940.4:c.240C>T	ENSP00000336528.4:p.Cys80=
ENST00000393716.6:c.123C>T	ENSP00000377319.2:p.Cys41=
ENST00000466380.5:c.123C>T	ENSP00000420297.1:p.Cys41=
ENST00000474090.1:n.411C>T
NM_003889.3:c.123C>T	NP_003880.3:p.Cys41=
NM_022002.2:c.240C>T	NP_071285.1:p.Cys80=
NM_033013.2:c.123C>T	NP_148934.1:p.Cys41=
NM_003889.4:c.123C>T MANE Select	NP_003880.3:p.Cys41=
NM_022002.3:c.240C>T	NP_071285.1:p.Cys80=
NM_033013.3:c.123C>T	NP_148934.1:p.Cys41=