Canonical Allele Identifier: CA2493965127

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877781C= , CM000664.2:g.43877781C=	GRCh38
NC_000002.11:g.44104920C= , CM000664.1:g.44104920C=	GRCh37
NC_000002.10:g.43958424C=	NCBI36
NG_008884.1:g.43818C=
NG_008884.2:g.50840C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1890C= MANE Select	ENSP00000272286.2:p.Leu630=
ENST00000272286.2:c.1890C=	ENSP00000272286.2:p.Leu630=
NM_022437.2:c.1890C=	NP_071882.1:p.Leu630=
XM_005264483.2:c.1887C=	XP_005264540.1:p.Leu629=
XM_011533029.1:c.1902C=	XP_011531331.1:p.Leu634=
XM_011533030.1:c.1899C=	XP_011531332.1:p.Leu633=
XM_011533031.1:c.1674C=	XP_011531333.1:p.Leu558=
XR_939707.1:n.2392C=
NM_001357321.1:c.1887C=	NP_001344250.1:p.Leu629=
XM_011533029.2:c.1902C=	XP_011531331.1:p.Leu634=
XM_011533030.2:c.1899C=	XP_011531332.1:p.Leu633=
XR_001738891.1:n.2406C=
XR_939707.2:n.2406C=
NM_022437.3:c.1890C= MANE Select	NP_071882.1:p.Leu630=
NM_001357321.2:c.1887C=	NP_001344250.1:p.Leu629=