Canonical Allele Identifier: CA2493965035

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877623C= , CM000664.2:g.43877623C=	GRCh38
NC_000002.11:g.44104762C= , CM000664.1:g.44104762C=	GRCh37
NC_000002.10:g.43958266C=	NCBI36
NG_008884.1:g.43660C=
NG_008884.2:g.50682C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1819C= MANE Select	ENSP00000272286.2:p.Gln607=
ENST00000272286.2:c.1819C=	ENSP00000272286.2:p.Gln607=
NM_022437.2:c.1819C=	NP_071882.1:p.Gln607=
XM_005264483.2:c.1816C=	XP_005264540.1:p.Gln606=
XM_011533029.1:c.1831C=	XP_011531331.1:p.Gln611=
XM_011533030.1:c.1828C=	XP_011531332.1:p.Gln610=
XM_011533031.1:c.1603C=	XP_011531333.1:p.Gln535=
XR_939707.1:n.2321C=
NM_001357321.1:c.1816C=	NP_001344250.1:p.Gln606=
XM_011533029.2:c.1831C=	XP_011531331.1:p.Gln611=
XM_011533030.2:c.1828C=	XP_011531332.1:p.Gln610=
XR_001738891.1:n.2335C=
XR_939707.2:n.2335C=
NM_022437.3:c.1819C= MANE Select	NP_071882.1:p.Gln607=
NM_001357321.2:c.1816C=	NP_001344250.1:p.Gln606=