Canonical Allele Identifier: CA2493963534

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875072G= , CM000664.2:g.43875072G=	GRCh38
NC_000002.11:g.44102211G= , CM000664.1:g.44102211G=	GRCh37
NC_000002.10:g.43955715G=	NCBI36
NG_008884.1:g.41109G=
NG_008884.2:g.48131G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1489-74G= MANE Select	ENSP00000272286.2:n.1489-74G=
ENST00000272286.2:c.1489-74G=	ENSP00000272286.2:n.1489-74G=
NM_022437.2:c.1489-74G=	NP_071882.1:n.1489-74G=
XM_005264483.2:c.1486-74G=	XP_005264540.1:n.1486-74G=
XM_011533029.1:c.1501-74G=	XP_011531331.1:n.1501-74G=
XM_011533030.1:c.1498-74G=	XP_011531332.1:n.1498-74G=
XM_011533031.1:c.1273-74G=	XP_011531333.1:n.1273-74G=
XR_939707.1:n.1991-74G=
NM_001357321.1:c.1486-74G=	NP_001344250.1:n.1486-74G=
XM_011533029.2:c.1501-74G=	XP_011531331.1:n.1501-74G=
XM_011533030.2:c.1498-74G=	XP_011531332.1:n.1498-74G=
XR_001738891.1:n.2005-74G=
XR_939707.2:n.2005-74G=
NM_022437.3:c.1489-74G= MANE Select	NP_071882.1:n.1489-74G=
NM_001357321.2:c.1486-74G=	NP_001344250.1:n.1486-74G=