Canonical Allele Identifier: CA2493948440

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43852483C= , CM000664.2:g.43852483C=	GRCh38
NC_000002.11:g.44079622C= , CM000664.1:g.44079622C=	GRCh37
NC_000002.10:g.43933126C=	NCBI36
NG_008884.1:g.18520C=
NG_008884.2:g.25542C=

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.691C= MANE Select	NP_071882.1:p.Pro231=
ENST00000272286.4:c.691C= MANE Select	ENSP00000272286.2:p.Pro231=
NM_001357321.1:c.691C=	NP_001344250.1:p.Pro231=
NM_001357321.2:c.691C=	NP_001344250.1:p.Pro231=
NM_022437.2:c.691C=	NP_071882.1:p.Pro231=
ENST00000272286.2:c.691C=	ENSP00000272286.2:p.Pro231=
ENST00000644611.1:c.703C=	ENSP00000495423.1:p.Pro235=
XM_005264483.2:c.691C=	XP_005264540.1:p.Pro231=
XM_011533029.1:c.703C=	XP_011531331.1:p.Pro235=
XM_011533029.2:c.703C=	XP_011531331.1:p.Pro235=
XM_011533030.1:c.703C=	XP_011531332.1:p.Pro235=
XM_011533030.2:c.703C=	XP_011531332.1:p.Pro235=
XM_011533031.1:c.475C=	XP_011531333.1:p.Pro159=
XR_001738891.1:n.1207C=
XR_939707.1:n.1193C=
XR_939707.2:n.1207C=