Canonical Allele Identifier: CA682643910

Gene: NR1H4

Linked Data

• dbSNP Id: rs1379789867
• gnomAD v3: 12-100550137-TTAGAG-T
• gnomAD v4: 12-100550137-TTAGAG-T
• MyVariant Identifiers: chr12:g.100943916_100943920del (hg19) ; chr12:g.100550138_100550142del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.100550140_100550144del , CM000674.2:g.100550140_100550144del	GRCh38
NC_000012.11:g.100943918_100943922del , CM000674.1:g.100943918_100943922del	GRCh37
NC_000012.10:g.99468049_99468053del	NCBI36
NG_029843.1:g.81368_81372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392986.8:c.1078+9322_1078+9326del MANE Select	ENSP00000376712.3:n.1078+9322_1078+9326del
ENST00000648861.1:c.1078+9322_1078+9326del	ENSP00000496908.1:n.1078+9322_1078+9326del
ENST00000188403.7:c.1096+9322_1096+9326del	ENSP00000188403.7:n.1096+9322_1096+9326del
ENST00000321046.9:c.*258+9322_*258+9326del	ENSP00000315442.5:n.*258+9322_*258+9326del
ENST00000392986.7:c.1078+9322_1078+9326del	ENSP00000376712.3:n.1078+9322_1078+9326del
ENST00000548884.5:c.1066+9322_1066+9326del	ENSP00000448506.1:n.1066+9322_1066+9326del
ENST00000549996.5:c.925+9322_925+9326del	ENSP00000448978.1:n.925+9322_925+9326del
ENST00000551379.5:c.1108+9322_1108+9326del	ENSP00000447149.1:n.1108+9322_1108+9326del
NM_001206977.1:c.1078+9322_1078+9326del	NP_001193906.1:n.1078+9322_1078+9326del
NM_001206978.1:c.925+9322_925+9326del	NP_001193907.1:n.925+9322_925+9326del
NM_001206979.1:c.1078+9322_1078+9326del	NP_001193908.1:n.1078+9322_1078+9326del
NM_001206992.1:c.1096+9322_1096+9326del	NP_001193921.1:n.1096+9322_1096+9326del
NM_001206993.1:c.1108+9322_1108+9326del	NP_001193922.1:n.1108+9322_1108+9326del
NM_005123.3:c.1066+9322_1066+9326del	NP_005114.1:n.1066+9322_1066+9326del
XM_011539040.1:c.1078+9322_1078+9326del	XP_011537342.1:n.1078+9322_1078+9326del
XM_011539041.1:c.955+9322_955+9326del	XP_011537343.1:n.955+9322_955+9326del
XR_245969.2:n.1561+9322_1561+9326del
NR_135146.1:n.1547+9322_1547+9326del
XM_011539040.2:c.1078+9322_1078+9326del	XP_011537342.1:n.1078+9322_1078+9326del
XM_011539041.2:c.955+9322_955+9326del	XP_011537343.1:n.955+9322_955+9326del
NM_001206979.2:c.1078+9322_1078+9326del MANE Select	NP_001193908.1:n.1078+9322_1078+9326del
NM_001206977.2:c.1078+9322_1078+9326del	NP_001193906.1:n.1078+9322_1078+9326del
NM_001206978.2:c.925+9322_925+9326del	NP_001193907.1:n.925+9322_925+9326del
NM_001206992.2:c.1096+9322_1096+9326del	NP_001193921.1:n.1096+9322_1096+9326del
NM_001206993.2:c.1108+9322_1108+9326del	NP_001193922.1:n.1108+9322_1108+9326del
NM_005123.4:c.1066+9322_1066+9326del	NP_005114.1:n.1066+9322_1066+9326del
NR_135146.2:n.1454+9322_1454+9326del