Canonical Allele Identifier: CA2493965174

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877882T= , CM000664.2:g.43877882T=	GRCh38
NC_000002.11:g.44105021T= , CM000664.1:g.44105021T=	GRCh37
NC_000002.10:g.43958525T=	NCBI36
NG_008884.1:g.43919T=
NG_008884.2:g.50941T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1991T= MANE Select	ENSP00000272286.2:p.Phe664=
ENST00000272286.2:c.1991T=	ENSP00000272286.2:p.Phe664=
NM_022437.2:c.1991T=	NP_071882.1:p.Phe664=
XM_005264483.2:c.1988T=	XP_005264540.1:p.Phe663=
XM_011533029.1:c.2003T=	XP_011531331.1:p.Phe668=
XM_011533030.1:c.2000T=	XP_011531332.1:p.Phe667=
XM_011533031.1:c.1775T=	XP_011531333.1:p.Phe592=
XR_939707.1:n.2493T=
NM_001357321.1:c.1988T=	NP_001344250.1:p.Phe663=
XM_011533029.2:c.2003T=	XP_011531331.1:p.Phe668=
XM_011533030.2:c.2000T=	XP_011531332.1:p.Phe667=
XR_001738891.1:n.2507T=
XR_939707.2:n.2507T=
NM_022437.3:c.1991T= MANE Select	NP_071882.1:p.Phe664=
NM_001357321.2:c.1988T=	NP_001344250.1:p.Phe663=