Canonical Allele Identifier: CA2493945147

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846259C= , CM000664.2:g.43846259C=	GRCh38
NC_000002.11:g.44073398C= , CM000664.1:g.44073398C=	GRCh37
NC_000002.10:g.43926902C=	NCBI36
NG_008884.1:g.12296C=
NG_008884.2:g.19318C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.270C= MANE Select	ENSP00000272286.2:p.Asn90=
ENST00000643284.1:n.727C=
ENST00000644611.1:c.282C=	ENSP00000495423.1:p.Asn94=
ENST00000272286.2:c.270C=	ENSP00000272286.2:p.Asn90=
NM_022437.2:c.270C=	NP_071882.1:p.Asn90=
XM_005264483.2:c.270C=	XP_005264540.1:p.Asn90=
XM_011533029.1:c.282C=	XP_011531331.1:p.Asn94=
XM_011533030.1:c.282C=	XP_011531332.1:p.Asn94=
XM_011533031.1:c.54C=	XP_011531333.1:p.Asn18=
XR_939707.1:n.772C=
NM_001357321.1:c.270C=	NP_001344250.1:p.Asn90=
XM_011533029.2:c.282C=	XP_011531331.1:p.Asn94=
XM_011533030.2:c.282C=	XP_011531332.1:p.Asn94=
XR_001738891.1:n.786C=
XR_939707.2:n.786C=
NM_022437.3:c.270C= MANE Select	NP_071882.1:p.Asn90=
NM_001357321.2:c.270C=	NP_001344250.1:p.Asn90=