Canonical Allele Identifier: CA2493945156

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846276G= , CM000664.2:g.43846276G=	GRCh38
NC_000002.11:g.44073415G= , CM000664.1:g.44073415G=	GRCh37
NC_000002.10:g.43926919G=	NCBI36
NG_008884.1:g.12313G=
NG_008884.2:g.19335G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.287G= MANE Select	ENSP00000272286.2:p.Arg96=
ENST00000643284.1:n.744G=
ENST00000644611.1:c.299G=	ENSP00000495423.1:p.Arg100=
ENST00000272286.2:c.287G=	ENSP00000272286.2:p.Arg96=
NM_022437.2:c.287G=	NP_071882.1:p.Arg96=
XM_005264483.2:c.287G=	XP_005264540.1:p.Arg96=
XM_011533029.1:c.299G=	XP_011531331.1:p.Arg100=
XM_011533030.1:c.299G=	XP_011531332.1:p.Arg100=
XM_011533031.1:c.71G=	XP_011531333.1:p.Arg24=
XR_939707.1:n.789G=
NM_001357321.1:c.287G=	NP_001344250.1:p.Arg96=
XM_011533029.2:c.299G=	XP_011531331.1:p.Arg100=
XM_011533030.2:c.299G=	XP_011531332.1:p.Arg100=
XR_001738891.1:n.803G=
XR_939707.2:n.803G=
NM_022437.3:c.287G= MANE Select	NP_071882.1:p.Arg96=
NM_001357321.2:c.287G=	NP_001344250.1:p.Arg96=