Canonical Allele Identifier: CA2493963708

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875354T= , CM000664.2:g.43875354T=	GRCh38
NC_000002.11:g.44102493T= , CM000664.1:g.44102493T=	GRCh37
NC_000002.10:g.43955997T=	NCBI36
NG_008884.1:g.41391T=
NG_008884.2:g.48413T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1697T= MANE Select	ENSP00000272286.2:p.Leu566=
ENST00000272286.2:c.1697T=	ENSP00000272286.2:p.Leu566=
NM_022437.2:c.1697T=	NP_071882.1:p.Leu566=
XM_005264483.2:c.1694T=	XP_005264540.1:p.Leu565=
XM_011533029.1:c.1709T=	XP_011531331.1:p.Leu570=
XM_011533030.1:c.1706T=	XP_011531332.1:p.Leu569=
XM_011533031.1:c.1481T=	XP_011531333.1:p.Leu494=
XR_939707.1:n.2199T=
NM_001357321.1:c.1694T=	NP_001344250.1:p.Leu565=
XM_011533029.2:c.1709T=	XP_011531331.1:p.Leu570=
XM_011533030.2:c.1706T=	XP_011531332.1:p.Leu569=
XR_001738891.1:n.2213T=
XR_939707.2:n.2213T=
NM_022437.3:c.1697T= MANE Select	NP_071882.1:p.Leu566=
NM_001357321.2:c.1694T=	NP_001344250.1:p.Leu565=