Canonical Allele Identifier: CA242361829
Gene: NR1H4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.100532796G>A , CM000674.2:g.100532796G>A GRCh38
NC_000012.11:g.100926574G>A , CM000674.1:g.100926574G>A GRCh37
NC_000012.10:g.99450705G>A NCBI36
NG_029843.1:g.64024G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392986.8:c.598+186G>A MANE Select ENSP00000376712.3:n.598+186G>A
ENST00000648861.1:c.598+186G>A ENSP00000496908.1:n.598+186G>A
ENST00000188403.7:c.616+198G>A ENSP00000188403.7:n.616+198G>A
ENST00000321046.9:c.586+198G>A ENSP00000315442.5:n.586+198G>A
ENST00000392986.7:c.598+186G>A ENSP00000376712.3:n.598+186G>A
ENST00000548884.5:c.586+198G>A ENSP00000448506.1:n.586+198G>A
ENST00000549996.5:c.446-2094G>A ENSP00000448978.1:n.446-2094G>A
ENST00000551379.5:c.628+186G>A ENSP00000447149.1:n.628+186G>A
NM_001206977.1:c.598+186G>A NP_001193906.1:n.598+186G>A
NM_001206978.1:c.446-2094G>A NP_001193907.1:n.446-2094G>A
NM_001206979.1:c.598+186G>A NP_001193908.1:n.598+186G>A
NM_001206992.1:c.616+198G>A NP_001193921.1:n.616+198G>A
NM_001206993.1:c.628+186G>A NP_001193922.1:n.628+186G>A
NM_005123.3:c.586+198G>A NP_005114.1:n.586+198G>A
XM_006719719.2:c.628+186G>A XP_006719782.1:n.628+186G>A
XM_011539040.1:c.598+186G>A XP_011537342.1:n.598+186G>A
XM_011539041.1:c.476-2094G>A XP_011537343.1:n.476-2094G>A
XM_011539042.1:c.616+198G>A XP_011537344.1:n.616+198G>A
XR_245969.2:n.1076+198G>A
NR_135146.1:n.1062+198G>A
XM_011539040.2:c.598+186G>A XP_011537342.1:n.598+186G>A
XM_011539041.2:c.476-2094G>A XP_011537343.1:n.476-2094G>A
NM_001206979.2:c.598+186G>A MANE Select NP_001193908.1:n.598+186G>A
NM_001206977.2:c.598+186G>A NP_001193906.1:n.598+186G>A
NM_001206978.2:c.446-2094G>A NP_001193907.1:n.446-2094G>A
NM_001206992.2:c.616+198G>A NP_001193921.1:n.616+198G>A
NM_001206993.2:c.628+186G>A NP_001193922.1:n.628+186G>A
NM_005123.4:c.586+198G>A NP_005114.1:n.586+198G>A
NR_135146.2:n.969+198G>A