Canonical Allele Identifier: CA242347572

Gene: NR1H4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.100493523T>C , CM000674.2:g.100493523T>C	GRCh38
NC_000012.11:g.100887301T>C , CM000674.1:g.100887301T>C	GRCh37
NC_000012.10:g.99411432T>C	NCBI36
NG_029843.1:g.24751T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001206979.2:c.79+121T>C MANE Select	NP_001193908.1:n.79+121T>C
ENST00000392986.8:c.79+121T>C MANE Select	ENSP00000376712.3:n.79+121T>C
NM_001206977.1:c.79+121T>C	NP_001193906.1:n.79+121T>C
NM_001206977.2:c.79+121T>C	NP_001193906.1:n.79+121T>C
NM_001206978.1:c.79+121T>C	NP_001193907.1:n.79+121T>C
NM_001206978.2:c.79+121T>C	NP_001193907.1:n.79+121T>C
NM_001206979.1:c.79+121T>C	NP_001193908.1:n.79+121T>C
NM_005123.3:c.79+121T>C	NP_005114.1:n.79+121T>C
NM_005123.4:c.79+121T>C	NP_005114.1:n.79+121T>C
NR_135146.1:n.555+121T>C
NR_135146.2:n.462+121T>C
ENST00000321046.9:c.79+121T>C	ENSP00000315442.5:n.79+121T>C
ENST00000392986.7:c.79+121T>C	ENSP00000376712.3:n.79+121T>C
ENST00000546380.1:c.79+121T>C	ENSP00000446760.1:n.79+121T>C
ENST00000548621.1:c.79+121T>C	ENSP00000446584.1:n.79+121T>C
ENST00000548621.2:c.79+121T>C	ENSP00000446584.1:n.79+121T>C
ENST00000548884.5:c.79+121T>C	ENSP00000448506.1:n.79+121T>C
ENST00000549996.5:c.79+121T>C	ENSP00000448978.1:n.79+121T>C
ENST00000648861.1:c.79+121T>C	ENSP00000496908.1:n.79+121T>C
ENST00000649582.1:c.79+121T>C	ENSP00000496824.1:n.79+121T>C
XM_011539040.1:c.79+121T>C	XP_011537342.1:n.79+121T>C
XM_011539040.2:c.79+121T>C	XP_011537342.1:n.79+121T>C
XR_245969.2:n.569+121T>C