Canonical Allele Identifier: CA2058411787
Community Standard Title: NM_001206979.2(NR1H4):c.1079-285C>A
Gene: NR1H4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.100561600C>A , CM000674.2:g.100561600C>A GRCh38
NC_000012.11:g.100955378C>A , CM000674.1:g.100955378C>A GRCh37
NC_000012.10:g.99479509C>A NCBI36
NG_029843.1:g.92828C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001206979.2:c.1079-285C>A MANE Select NP_001193908.1:n.1079-285C>A
ENST00000392986.8:c.1079-285C>A MANE Select ENSP00000376712.3:n.1079-285C>A
NM_001206977.1:c.1079-285C>A NP_001193906.1:n.1079-285C>A
NM_001206977.2:c.1079-285C>A NP_001193906.1:n.1079-285C>A
NM_001206978.1:c.926-285C>A NP_001193907.1:n.926-285C>A
NM_001206978.2:c.926-285C>A NP_001193907.1:n.926-285C>A
NM_001206979.1:c.1079-285C>A NP_001193908.1:n.1079-285C>A
NM_001206992.1:c.1097-285C>A NP_001193921.1:n.1097-285C>A
NM_001206992.2:c.1097-285C>A NP_001193921.1:n.1097-285C>A
NM_001206993.1:c.1109-285C>A NP_001193922.1:n.1109-285C>A
NM_001206993.2:c.1109-285C>A NP_001193922.1:n.1109-285C>A
NM_005123.3:c.1067-285C>A NP_005114.1:n.1067-285C>A
NM_005123.4:c.1067-285C>A NP_005114.1:n.1067-285C>A
NR_135146.1:n.1548-285C>A
NR_135146.2:n.1455-285C>A
ENST00000188403.7:c.1097-285C>A ENSP00000188403.7:n.1097-285C>A
ENST00000321046.9:c.*259-285C>A ENSP00000315442.5:n.*259-285C>A
ENST00000392986.7:c.1079-285C>A ENSP00000376712.3:n.1079-285C>A
ENST00000548884.5:c.1067-285C>A ENSP00000448506.1:n.1067-285C>A
ENST00000549996.5:c.926-285C>A ENSP00000448978.1:n.926-285C>A
ENST00000551379.5:c.1109-285C>A ENSP00000447149.1:n.1109-285C>A
ENST00000648861.1:c.1079-285C>A ENSP00000496908.1:n.1079-285C>A
XM_011539040.1:c.1079-285C>A XP_011537342.1:n.1079-285C>A
XM_011539040.2:c.1079-285C>A XP_011537342.1:n.1079-285C>A
XM_011539041.1:c.956-285C>A XP_011537343.1:n.956-285C>A
XM_011539041.2:c.956-285C>A XP_011537343.1:n.956-285C>A
XR_245969.2:n.1562-285C>A