Canonical Allele Identifier: CA2493963662

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875281T= , CM000664.2:g.43875281T=	GRCh38
NC_000002.11:g.44102420T= , CM000664.1:g.44102420T=	GRCh37
NC_000002.10:g.43955924T=	NCBI36
NG_008884.1:g.41318T=
NG_008884.2:g.48340T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1624T= MANE Select	ENSP00000272286.2:p.Cys542=
ENST00000272286.2:c.1624T=	ENSP00000272286.2:p.Cys542=
NM_022437.2:c.1624T=	NP_071882.1:p.Cys542=
XM_005264483.2:c.1621T=	XP_005264540.1:p.Cys541=
XM_011533029.1:c.1636T=	XP_011531331.1:p.Cys546=
XM_011533030.1:c.1633T=	XP_011531332.1:p.Cys545=
XM_011533031.1:c.1408T=	XP_011531333.1:p.Cys470=
XR_939707.1:n.2126T=
NM_001357321.1:c.1621T=	NP_001344250.1:p.Cys541=
XM_011533029.2:c.1636T=	XP_011531331.1:p.Cys546=
XM_011533030.2:c.1633T=	XP_011531332.1:p.Cys545=
XR_001738891.1:n.2140T=
XR_939707.2:n.2140T=
NM_022437.3:c.1624T= MANE Select	NP_071882.1:p.Cys542=
NM_001357321.2:c.1621T=	NP_001344250.1:p.Cys541=