Canonical Allele Identifier: CA2493963669

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875297T= , CM000664.2:g.43875297T=	GRCh38
NC_000002.11:g.44102436T= , CM000664.1:g.44102436T=	GRCh37
NC_000002.10:g.43955940T=	NCBI36
NG_008884.1:g.41334T=
NG_008884.2:g.48356T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1640T= MANE Select	ENSP00000272286.2:p.Leu547=
ENST00000272286.2:c.1640T=	ENSP00000272286.2:p.Leu547=
NM_022437.2:c.1640T=	NP_071882.1:p.Leu547=
XM_005264483.2:c.1637T=	XP_005264540.1:p.Leu546=
XM_011533029.1:c.1652T=	XP_011531331.1:p.Leu551=
XM_011533030.1:c.1649T=	XP_011531332.1:p.Leu550=
XM_011533031.1:c.1424T=	XP_011531333.1:p.Leu475=
XR_939707.1:n.2142T=
NM_001357321.1:c.1637T=	NP_001344250.1:p.Leu546=
XM_011533029.2:c.1652T=	XP_011531331.1:p.Leu551=
XM_011533030.2:c.1649T=	XP_011531332.1:p.Leu550=
XR_001738891.1:n.2156T=
XR_939707.2:n.2156T=
NM_022437.3:c.1640T= MANE Select	NP_071882.1:p.Leu547=
NM_001357321.2:c.1637T=	NP_001344250.1:p.Leu546=