Canonical Allele Identifier: CA2493965058

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877656G= , CM000664.2:g.43877656G=	GRCh38
NC_000002.11:g.44104795G= , CM000664.1:g.44104795G=	GRCh37
NC_000002.10:g.43958299G=	NCBI36
NG_008884.1:g.43693G=
NG_008884.2:g.50715G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1852G= MANE Select	ENSP00000272286.2:p.Gly618=
ENST00000272286.2:c.1852G=	ENSP00000272286.2:p.Gly618=
NM_022437.2:c.1852G=	NP_071882.1:p.Gly618=
XM_005264483.2:c.1849G=	XP_005264540.1:p.Gly617=
XM_011533029.1:c.1864G=	XP_011531331.1:p.Gly622=
XM_011533030.1:c.1861G=	XP_011531332.1:p.Gly621=
XM_011533031.1:c.1636G=	XP_011531333.1:p.Gly546=
XR_939707.1:n.2354G=
NM_001357321.1:c.1849G=	NP_001344250.1:p.Gly617=
XM_011533029.2:c.1864G=	XP_011531331.1:p.Gly622=
XM_011533030.2:c.1861G=	XP_011531332.1:p.Gly621=
XR_001738891.1:n.2368G=
XR_939707.2:n.2368G=
NM_022437.3:c.1852G= MANE Select	NP_071882.1:p.Gly618=
NM_001357321.2:c.1849G=	NP_001344250.1:p.Gly617=