Canonical Allele Identifier: CA6739265

Gene: NR1H4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.100532538C>T , CM000674.2:g.100532538C>T	GRCh38
NC_000012.11:g.100926316C>T , CM000674.1:g.100926316C>T	GRCh37
NC_000012.10:g.99450447C>T	NCBI36
NG_029843.1:g.63766C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001206979.2:c.526C>T MANE Select	NP_001193908.1:p.Arg176Ter
ENST00000392986.8:c.526C>T MANE Select	ENSP00000376712.3:p.Arg176Ter
NM_001206977.1:c.526C>T	NP_001193906.1:p.Arg176Ter
NM_001206977.2:c.526C>T	NP_001193906.1:p.Arg176Ter
NM_001206978.1:c.446-2352C>T	NP_001193907.1:n.446-2352C>T
NM_001206978.2:c.446-2352C>T	NP_001193907.1:n.446-2352C>T
NM_001206979.1:c.526C>T	NP_001193908.1:p.Arg176Ter
NM_001206992.1:c.556C>T	NP_001193921.1:p.Arg186Ter
NM_001206992.2:c.556C>T	NP_001193921.1:p.Arg186Ter
NM_001206993.1:c.556C>T	NP_001193922.1:p.Arg186Ter
NM_001206993.2:c.556C>T	NP_001193922.1:p.Arg186Ter
NM_005123.3:c.526C>T	NP_005114.1:p.Arg176Ter
NM_005123.4:c.526C>T	NP_005114.1:p.Arg176Ter
NR_135146.1:n.1002C>T
NR_135146.2:n.909C>T
ENST00000188403.7:c.556C>T	ENSP00000188403.7:p.Arg186Ter
ENST00000321046.9:c.526C>T	ENSP00000315442.5:p.Arg176Ter
ENST00000392986.7:c.526C>T	ENSP00000376712.3:p.Arg176Ter
ENST00000548884.5:c.526C>T	ENSP00000448506.1:p.Arg176Ter
ENST00000549996.5:c.446-2352C>T	ENSP00000448978.1:n.446-2352C>T
ENST00000551379.5:c.556C>T	ENSP00000447149.1:p.Arg186Ter
ENST00000648861.1:c.526C>T	ENSP00000496908.1:p.Arg176Ter
XM_006719719.2:c.556C>T	XP_006719782.1:p.Arg186Ter
XM_011539040.1:c.526C>T	XP_011537342.1:p.Arg176Ter
XM_011539040.2:c.526C>T	XP_011537342.1:p.Arg176Ter
XM_011539041.1:c.476-2352C>T	XP_011537343.1:n.476-2352C>T
XM_011539041.2:c.476-2352C>T	XP_011537343.1:n.476-2352C>T
XM_011539042.1:c.556C>T	XP_011537344.1:p.Arg186Ter
XR_245969.2:n.1016C>T