Canonical Allele Identifier: CA242365696

Gene: NR1H4

Linked Data

• dbSNP Id: rs1052268694
• gnomAD v3: 12-100550145-T-C
• gnomAD v4: 12-100550145-T-C
• MyVariant Identifiers: chr12:g.100943923T>C (hg19) ; chr12:g.100550145T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.100550145T>C , CM000674.2:g.100550145T>C	GRCh38
NC_000012.11:g.100943923T>C , CM000674.1:g.100943923T>C	GRCh37
NC_000012.10:g.99468054T>C	NCBI36
NG_029843.1:g.81373T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000392986.8:c.1078+9327T>C MANE Select	ENSP00000376712.3:n.1078+9327T>C
ENST00000648861.1:c.1078+9327T>C	ENSP00000496908.1:n.1078+9327T>C
ENST00000188403.7:c.1096+9327T>C	ENSP00000188403.7:n.1096+9327T>C
ENST00000321046.9:c.*258+9327T>C	ENSP00000315442.5:n.*258+9327T>C
ENST00000392986.7:c.1078+9327T>C	ENSP00000376712.3:n.1078+9327T>C
ENST00000548884.5:c.1066+9327T>C	ENSP00000448506.1:n.1066+9327T>C
ENST00000549996.5:c.925+9327T>C	ENSP00000448978.1:n.925+9327T>C
ENST00000551379.5:c.1108+9327T>C	ENSP00000447149.1:n.1108+9327T>C
NM_001206977.1:c.1078+9327T>C	NP_001193906.1:n.1078+9327T>C
NM_001206978.1:c.925+9327T>C	NP_001193907.1:n.925+9327T>C
NM_001206979.1:c.1078+9327T>C	NP_001193908.1:n.1078+9327T>C
NM_001206992.1:c.1096+9327T>C	NP_001193921.1:n.1096+9327T>C
NM_001206993.1:c.1108+9327T>C	NP_001193922.1:n.1108+9327T>C
NM_005123.3:c.1066+9327T>C	NP_005114.1:n.1066+9327T>C
XM_011539040.1:c.1078+9327T>C	XP_011537342.1:n.1078+9327T>C
XM_011539041.1:c.955+9327T>C	XP_011537343.1:n.955+9327T>C
XR_245969.2:n.1561+9327T>C
NR_135146.1:n.1547+9327T>C
XM_011539040.2:c.1078+9327T>C	XP_011537342.1:n.1078+9327T>C
XM_011539041.2:c.955+9327T>C	XP_011537343.1:n.955+9327T>C
NM_001206979.2:c.1078+9327T>C MANE Select	NP_001193908.1:n.1078+9327T>C
NM_001206977.2:c.1078+9327T>C	NP_001193906.1:n.1078+9327T>C
NM_001206978.2:c.925+9327T>C	NP_001193907.1:n.925+9327T>C
NM_001206992.2:c.1096+9327T>C	NP_001193921.1:n.1096+9327T>C
NM_001206993.2:c.1108+9327T>C	NP_001193922.1:n.1108+9327T>C
NM_005123.4:c.1066+9327T>C	NP_005114.1:n.1066+9327T>C
NR_135146.2:n.1454+9327T>C