Canonical Allele Identifier: CA2493965275

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878041C= , CM000664.2:g.43878041C=	GRCh38
NC_000002.11:g.44105180C= , CM000664.1:g.44105180C=	GRCh37
NC_000002.10:g.43958684C=	NCBI36
NG_008884.1:g.44078C=
NG_008884.2:g.51100C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*128C= MANE Select	ENSP00000272286.2:n.*128C=
ENST00000272286.2:c.*128C=	ENSP00000272286.2:n.*128C=
NM_022437.2:c.*128C=	NP_071882.1:n.*128C=
XM_005264483.2:c.*128C=	XP_005264540.1:n.*128C=
XM_011533029.1:c.*128C=	XP_011531331.1:n.*128C=
XM_011533030.1:c.*128C=	XP_011531332.1:n.*128C=
XM_011533031.1:c.*128C=	XP_011531333.1:n.*128C=
XR_939707.1:n.2652C=
NM_001357321.1:c.*128C=	NP_001344250.1:n.*128C=
XM_011533029.2:c.*128C=	XP_011531331.1:n.*128C=
XM_011533030.2:c.*128C=	XP_011531332.1:n.*128C=
XR_001738891.1:n.2666C=
XR_939707.2:n.2666C=
NM_022437.3:c.*128C= MANE Select	NP_071882.1:n.*128C=
NM_001357321.2:c.*128C=	NP_001344250.1:n.*128C=