Canonical Allele Identifier: CA2493963698

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875341T= , CM000664.2:g.43875341T=	GRCh38
NC_000002.11:g.44102480T= , CM000664.1:g.44102480T=	GRCh37
NC_000002.10:g.43955984T=	NCBI36
NG_008884.1:g.41378T=
NG_008884.2:g.48400T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1684T= MANE Select	ENSP00000272286.2:p.Phe562=
ENST00000272286.2:c.1684T=	ENSP00000272286.2:p.Phe562=
NM_022437.2:c.1684T=	NP_071882.1:p.Phe562=
XM_005264483.2:c.1681T=	XP_005264540.1:p.Phe561=
XM_011533029.1:c.1696T=	XP_011531331.1:p.Phe566=
XM_011533030.1:c.1693T=	XP_011531332.1:p.Phe565=
XM_011533031.1:c.1468T=	XP_011531333.1:p.Phe490=
XR_939707.1:n.2186T=
NM_001357321.1:c.1681T=	NP_001344250.1:p.Phe561=
XM_011533029.2:c.1696T=	XP_011531331.1:p.Phe566=
XM_011533030.2:c.1693T=	XP_011531332.1:p.Phe565=
XR_001738891.1:n.2200T=
XR_939707.2:n.2200T=
NM_022437.3:c.1684T= MANE Select	NP_071882.1:p.Phe562=
NM_001357321.2:c.1681T=	NP_001344250.1:p.Phe561=