Canonical Allele Identifier: CA46470811

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875170T>C , CM000664.2:g.43875170T>C	GRCh38
NC_000002.11:g.44102309T>C , CM000664.1:g.44102309T>C	GRCh37
NC_000002.10:g.43955813T>C	NCBI36
NG_008884.1:g.41207T>C
NG_008884.2:g.48229T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1513T>C MANE Select	NP_071882.1:p.Cys505Arg
ENST00000272286.4:c.1513T>C MANE Select	ENSP00000272286.2:p.Cys505Arg
NM_001357321.1:c.1510T>C	NP_001344250.1:p.Cys504Arg
NM_001357321.2:c.1510T>C	NP_001344250.1:p.Cys504Arg
NM_022437.2:c.1513T>C	NP_071882.1:p.Cys505Arg
ENST00000272286.2:c.1513T>C	ENSP00000272286.2:p.Cys505Arg
XM_005264483.2:c.1510T>C	XP_005264540.1:p.Cys504Arg
XM_011533029.1:c.1525T>C	XP_011531331.1:p.Cys509Arg
XM_011533029.2:c.1525T>C	XP_011531331.1:p.Cys509Arg
XM_011533030.1:c.1522T>C	XP_011531332.1:p.Cys508Arg
XM_011533030.2:c.1522T>C	XP_011531332.1:p.Cys508Arg
XM_011533031.1:c.1297T>C	XP_011531333.1:p.Cys433Arg
XR_001738891.1:n.2029T>C
XR_939707.1:n.2015T>C
XR_939707.2:n.2029T>C