Canonical Allele Identifier: CA2493963586

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875149C= , CM000664.2:g.43875149C=	GRCh38
NC_000002.11:g.44102288C= , CM000664.1:g.44102288C=	GRCh37
NC_000002.10:g.43955792C=	NCBI36
NG_008884.1:g.41186C=
NG_008884.2:g.48208C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1492C= MANE Select	ENSP00000272286.2:p.Leu498=
ENST00000272286.2:c.1492C=	ENSP00000272286.2:p.Leu498=
NM_022437.2:c.1492C=	NP_071882.1:p.Leu498=
XM_005264483.2:c.1489C=	XP_005264540.1:p.Leu497=
XM_011533029.1:c.1504C=	XP_011531331.1:p.Leu502=
XM_011533030.1:c.1501C=	XP_011531332.1:p.Leu501=
XM_011533031.1:c.1276C=	XP_011531333.1:p.Leu426=
XR_939707.1:n.1994C=
NM_001357321.1:c.1489C=	NP_001344250.1:p.Leu497=
XM_011533029.2:c.1504C=	XP_011531331.1:p.Leu502=
XM_011533030.2:c.1501C=	XP_011531332.1:p.Leu501=
XR_001738891.1:n.2008C=
XR_939707.2:n.2008C=
NM_022437.3:c.1492C= MANE Select	NP_071882.1:p.Leu498=
NM_001357321.2:c.1489C=	NP_001344250.1:p.Leu497=