Canonical Allele Identifier: CA2493963555

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875099C= , CM000664.2:g.43875099C=	GRCh38
NC_000002.11:g.44102238C= , CM000664.1:g.44102238C=	GRCh37
NC_000002.10:g.43955742C=	NCBI36
NG_008884.1:g.41136C=
NG_008884.2:g.48158C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1489-47C= MANE Select	ENSP00000272286.2:n.1489-47C=
ENST00000272286.2:c.1489-47C=	ENSP00000272286.2:n.1489-47C=
NM_022437.2:c.1489-47C=	NP_071882.1:n.1489-47C=
XM_005264483.2:c.1486-47C=	XP_005264540.1:n.1486-47C=
XM_011533029.1:c.1501-47C=	XP_011531331.1:n.1501-47C=
XM_011533030.1:c.1498-47C=	XP_011531332.1:n.1498-47C=
XM_011533031.1:c.1273-47C=	XP_011531333.1:n.1273-47C=
XR_939707.1:n.1991-47C=
NM_001357321.1:c.1486-47C=	NP_001344250.1:n.1486-47C=
XM_011533029.2:c.1501-47C=	XP_011531331.1:n.1501-47C=
XM_011533030.2:c.1498-47C=	XP_011531332.1:n.1498-47C=
XR_001738891.1:n.2005-47C=
XR_939707.2:n.2005-47C=
NM_022437.3:c.1489-47C= MANE Select	NP_071882.1:n.1489-47C=
NM_001357321.2:c.1486-47C=	NP_001344250.1:n.1486-47C=