Canonical Allele Identifier: CA2493963704

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875347A= , CM000664.2:g.43875347A=	GRCh38
NC_000002.11:g.44102486A= , CM000664.1:g.44102486A=	GRCh37
NC_000002.10:g.43955990A=	NCBI36
NG_008884.1:g.41384A=
NG_008884.2:g.48406A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1690A= MANE Select	ENSP00000272286.2:p.Asn564=
ENST00000272286.2:c.1690A=	ENSP00000272286.2:p.Asn564=
NM_022437.2:c.1690A=	NP_071882.1:p.Asn564=
XM_005264483.2:c.1687A=	XP_005264540.1:p.Asn563=
XM_011533029.1:c.1702A=	XP_011531331.1:p.Asn568=
XM_011533030.1:c.1699A=	XP_011531332.1:p.Asn567=
XM_011533031.1:c.1474A=	XP_011531333.1:p.Asn492=
XR_939707.1:n.2192A=
NM_001357321.1:c.1687A=	NP_001344250.1:p.Asn563=
XM_011533029.2:c.1702A=	XP_011531331.1:p.Asn568=
XM_011533030.2:c.1699A=	XP_011531332.1:p.Asn567=
XR_001738891.1:n.2206A=
XR_939707.2:n.2206A=
NM_022437.3:c.1690A= MANE Select	NP_071882.1:p.Asn564=
NM_001357321.2:c.1687A=	NP_001344250.1:p.Asn563=