Canonical Allele Identifier: CA951117014

Gene: NR1H4

Linked Data

• dbSNP Id: rs1955173754
• gnomAD v3: 12-100550232-A-G
• gnomAD v4: 12-100550232-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.100550232A>G , CM000674.2:g.100550232A>G	GRCh38
NC_000012.11:g.100944010A>G , CM000674.1:g.100944010A>G	GRCh37
NC_000012.10:g.99468141A>G	NCBI36
NG_029843.1:g.81460A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392986.8:c.1078+9414A>G MANE Select	ENSP00000376712.3:n.1078+9414A>G
ENST00000648861.1:c.1078+9414A>G	ENSP00000496908.1:n.1078+9414A>G
ENST00000188403.7:c.1096+9414A>G	ENSP00000188403.7:n.1096+9414A>G
ENST00000321046.9:c.*258+9414A>G	ENSP00000315442.5:n.*258+9414A>G
ENST00000392986.7:c.1078+9414A>G	ENSP00000376712.3:n.1078+9414A>G
ENST00000548884.5:c.1066+9414A>G	ENSP00000448506.1:n.1066+9414A>G
ENST00000549996.5:c.925+9414A>G	ENSP00000448978.1:n.925+9414A>G
ENST00000551379.5:c.1108+9414A>G	ENSP00000447149.1:n.1108+9414A>G
NM_001206977.1:c.1078+9414A>G	NP_001193906.1:n.1078+9414A>G
NM_001206978.1:c.925+9414A>G	NP_001193907.1:n.925+9414A>G
NM_001206979.1:c.1078+9414A>G	NP_001193908.1:n.1078+9414A>G
NM_001206992.1:c.1096+9414A>G	NP_001193921.1:n.1096+9414A>G
NM_001206993.1:c.1108+9414A>G	NP_001193922.1:n.1108+9414A>G
NM_005123.3:c.1066+9414A>G	NP_005114.1:n.1066+9414A>G
XM_011539040.1:c.1078+9414A>G	XP_011537342.1:n.1078+9414A>G
XM_011539041.1:c.955+9414A>G	XP_011537343.1:n.955+9414A>G
XR_245969.2:n.1561+9414A>G
NR_135146.1:n.1547+9414A>G
XM_011539040.2:c.1078+9414A>G	XP_011537342.1:n.1078+9414A>G
XM_011539041.2:c.955+9414A>G	XP_011537343.1:n.955+9414A>G
NM_001206979.2:c.1078+9414A>G MANE Select	NP_001193908.1:n.1078+9414A>G
NM_001206977.2:c.1078+9414A>G	NP_001193906.1:n.1078+9414A>G
NM_001206978.2:c.925+9414A>G	NP_001193907.1:n.925+9414A>G
NM_001206992.2:c.1096+9414A>G	NP_001193921.1:n.1096+9414A>G
NM_001206993.2:c.1108+9414A>G	NP_001193922.1:n.1108+9414A>G
NM_005123.4:c.1066+9414A>G	NP_005114.1:n.1066+9414A>G
NR_135146.2:n.1454+9414A>G