Canonical Allele Identifier: CA2493962854

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43873809C= , CM000664.2:g.43873809C=	GRCh38
NC_000002.11:g.44100948C= , CM000664.1:g.44100948C=	GRCh37
NC_000002.10:g.43954452C=	NCBI36
NG_008884.1:g.39846C=
NG_008884.2:g.46868C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1234C= MANE Select	ENSP00000272286.2:p.Arg412=
ENST00000644611.1:c.1246C=	ENSP00000495423.1:p.Arg416=
ENST00000272286.2:c.1234C=	ENSP00000272286.2:p.Arg412=
NM_022437.2:c.1234C=	NP_071882.1:p.Arg412=
XM_005264483.2:c.1231C=	XP_005264540.1:p.Arg411=
XM_011533029.1:c.1246C=	XP_011531331.1:p.Arg416=
XM_011533030.1:c.1243C=	XP_011531332.1:p.Arg415=
XM_011533031.1:c.1018C=	XP_011531333.1:p.Arg340=
XR_939707.1:n.1736C=
NM_001357321.1:c.1231C=	NP_001344250.1:p.Arg411=
XM_011533029.2:c.1246C=	XP_011531331.1:p.Arg416=
XM_011533030.2:c.1243C=	XP_011531332.1:p.Arg415=
XR_001738891.1:n.1750C=
XR_939707.2:n.1750C=
NM_022437.3:c.1234C= MANE Select	NP_071882.1:p.Arg412=
NM_001357321.2:c.1231C=	NP_001344250.1:p.Arg411=