Canonical Allele Identifier: CA1969293927

Gene: NR1H3

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47264739T>G , CM000673.2:g.47264739T>G	GRCh38
NC_000011.9:g.47286290T>G , CM000673.1:g.47286290T>G	GRCh37
NC_000011.8:g.47242866T>G	NCBI36
NG_029462.1:g.364T>G
NG_030392.1:g.21440T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441012.7:c.988+2721T>G MANE Select	ENSP00000387946.2:n.988+2721T>G
ENST00000395397.7:c.853+2721T>G	ENSP00000378793.3:n.853+2721T>G
ENST00000405576.5:c.673+2721T>G	ENSP00000385073.1:n.673+2721T>G
ENST00000405853.7:c.808+2721T>G	ENSP00000384745.3:n.808+2721T>G
ENST00000407404.5:c.808+2721T>G	ENSP00000385801.1:n.808+2721T>G
ENST00000441012.6:c.988+2721T>G	ENSP00000387946.2:n.988+2721T>G
ENST00000467728.5:c.988+2721T>G	ENSP00000420656.1:n.988+2721T>G
ENST00000481020.5:n.1213+2721T>G
ENST00000481889.6:c.1045+2721T>G	ENSP00000433271.1:n.1045+2721T>G
ENST00000527949.1:c.535+2721T>G	ENSP00000432073.1:n.535+2721T>G
ENST00000529540.5:n.1175+2721T>G
ENST00000531660.5:c.406+2721T>G	ENSP00000434650.1:n.406+2721T>G
ENST00000532630.1:n.74-3174T>G
ENST00000616973.4:c.1006+2721T>G	ENSP00000477707.1:n.1006+2721T>G
NM_001130101.2:c.808+2721T>G	NP_001123573.1:n.808+2721T>G
NM_001130102.2:c.853+2721T>G	NP_001123574.1:n.853+2721T>G
NM_001251934.1:c.1006+2721T>G	NP_001238863.1:n.1006+2721T>G
NM_001251935.1:c.1006+2721T>G	NP_001238864.1:n.1006+2721T>G
NM_005693.3:c.988+2721T>G	NP_005684.2:n.988+2721T>G
XM_005252705.1:c.988+2721T>G	XP_005252762.1:n.988+2721T>G
XM_005252706.1:c.988+2721T>G	XP_005252763.1:n.988+2721T>G
XM_005252707.3:c.988+2721T>G	XP_005252764.1:n.988+2721T>G
XM_005252709.1:c.853+2721T>G	XP_005252766.1:n.853+2721T>G
XM_005252710.1:c.853+2721T>G	XP_005252767.1:n.853+2721T>G
XM_005252713.2:c.808+2721T>G	XP_005252770.1:n.808+2721T>G
XM_005252715.2:c.721+2721T>G	XP_005252772.1:n.721+2721T>G
XM_005252716.2:c.586+2721T>G	XP_005252773.1:n.586+2721T>G
XM_005252718.2:c.406+2721T>G	XP_005252775.1:n.406+2721T>G
XM_006718112.1:c.988+2721T>G	XP_006718175.1:n.988+2721T>G
XM_006718113.1:c.988+2721T>G	XP_006718176.1:n.988+2721T>G
XM_006718114.2:c.988+2721T>G	XP_006718177.1:n.988+2721T>G
XM_006718115.1:c.853+2721T>G	XP_006718178.1:n.853+2721T>G
XM_006718116.1:c.853+2721T>G	XP_006718179.1:n.853+2721T>G
XM_011519805.1:c.988+2721T>G	XP_011518107.1:n.988+2721T>G
XM_011519806.1:c.673+2721T>G	XP_011518108.1:n.673+2721T>G
XM_011519807.1:c.586+2721T>G	XP_011518109.1:n.586+2721T>G
XM_011519808.1:c.352+2721T>G	XP_011518110.1:n.352+2721T>G
NM_001363595.1:c.673+2721T>G	NP_001350524.1:n.673+2721T>G
XM_005252713.3:c.808+2721T>G	XP_005252770.1:n.808+2721T>G
XM_005252718.3:c.406+2721T>G	XP_005252775.1:n.406+2721T>G
XM_011519805.2:c.988+2721T>G	XP_011518107.1:n.988+2721T>G
XM_011519808.2:c.352+2721T>G	XP_011518110.1:n.352+2721T>G
XM_017017056.1:c.853+2721T>G	XP_016872545.1:n.853+2721T>G
XM_017017057.1:c.853+2721T>G	XP_016872546.1:n.853+2721T>G
XM_024448284.1:c.1180+2721T>G	XP_024304052.1:n.1180+2721T>G
XM_024448285.1:c.1180+2721T>G	XP_024304053.1:n.1180+2721T>G
XM_024448286.1:c.1180+2721T>G	XP_024304054.1:n.1180+2721T>G
XM_024448287.1:c.1180+2721T>G	XP_024304055.1:n.1180+2721T>G
XM_024448288.1:c.1180+2721T>G	XP_024304056.1:n.1180+2721T>G
XM_024448289.1:c.853+2721T>G	XP_024304057.1:n.853+2721T>G
XM_024448290.1:c.1045+2721T>G	XP_024304058.1:n.1045+2721T>G
XM_024448291.1:c.1045+2721T>G	XP_024304059.1:n.1045+2721T>G
XM_024448292.1:c.1045+2721T>G	XP_024304060.1:n.1045+2721T>G
XM_024448293.1:c.1045+2721T>G	XP_024304061.1:n.1045+2721T>G
XM_024448294.1:c.1045+2721T>G	XP_024304062.1:n.1045+2721T>G
XM_024448295.1:c.1045+2721T>G	XP_024304063.1:n.1045+2721T>G
XM_024448296.1:c.778+2721T>G	XP_024304064.1:n.778+2721T>G
XM_024448297.1:c.913+2721T>G	XP_024304065.1:n.913+2721T>G
XM_024448298.1:c.853+2721T>G	XP_024304066.1:n.853+2721T>G
XM_024448299.1:c.778+2721T>G	XP_024304067.1:n.778+2721T>G
XM_024448300.1:c.1045+2721T>G	XP_024304068.1:n.1045+2721T>G
XM_024448302.1:c.544+2721T>G	XP_024304070.1:n.544+2721T>G
NM_005693.4:c.988+2721T>G MANE Select	NP_005684.2:n.988+2721T>G
NM_001130101.3:c.808+2721T>G	NP_001123573.1:n.808+2721T>G
NM_001130102.3:c.853+2721T>G	NP_001123574.1:n.853+2721T>G
NM_001363595.2:c.673+2721T>G	NP_001350524.1:n.673+2721T>G
NM_001251934.2:c.1006+2721T>G	NP_001238863.1:n.1006+2721T>G
NM_001251935.2:c.1006+2721T>G	NP_001238864.1:n.1006+2721T>G