Canonical Allele Identifier: CA2493963660

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875277C= , CM000664.2:g.43875277C=	GRCh38
NC_000002.11:g.44102416C= , CM000664.1:g.44102416C=	GRCh37
NC_000002.10:g.43955920C=	NCBI36
NG_008884.1:g.41314C=
NG_008884.2:g.48336C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1620C= MANE Select	ENSP00000272286.2:p.Phe540=
ENST00000272286.2:c.1620C=	ENSP00000272286.2:p.Phe540=
NM_022437.2:c.1620C=	NP_071882.1:p.Phe540=
XM_005264483.2:c.1617C=	XP_005264540.1:p.Phe539=
XM_011533029.1:c.1632C=	XP_011531331.1:p.Phe544=
XM_011533030.1:c.1629C=	XP_011531332.1:p.Phe543=
XM_011533031.1:c.1404C=	XP_011531333.1:p.Phe468=
XR_939707.1:n.2122C=
NM_001357321.1:c.1617C=	NP_001344250.1:p.Phe539=
XM_011533029.2:c.1632C=	XP_011531331.1:p.Phe544=
XM_011533030.2:c.1629C=	XP_011531332.1:p.Phe543=
XR_001738891.1:n.2136C=
XR_939707.2:n.2136C=
NM_022437.3:c.1620C= MANE Select	NP_071882.1:p.Phe540=
NM_001357321.2:c.1617C=	NP_001344250.1:p.Phe539=