Canonical Allele Identifier: CA2493965129

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877786T= , CM000664.2:g.43877786T=	GRCh38
NC_000002.11:g.44104925T= , CM000664.1:g.44104925T=	GRCh37
NC_000002.10:g.43958429T=	NCBI36
NG_008884.1:g.43823T=
NG_008884.2:g.50845T=

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1895T= MANE Select	NP_071882.1:p.Val632=
ENST00000272286.4:c.1895T= MANE Select	ENSP00000272286.2:p.Val632=
NM_001357321.1:c.1892T=	NP_001344250.1:p.Val631=
NM_001357321.2:c.1892T=	NP_001344250.1:p.Val631=
NM_022437.2:c.1895T=	NP_071882.1:p.Val632=
ENST00000272286.2:c.1895T=	ENSP00000272286.2:p.Val632=
XM_005264483.2:c.1892T=	XP_005264540.1:p.Val631=
XM_011533029.1:c.1907T=	XP_011531331.1:p.Val636=
XM_011533029.2:c.1907T=	XP_011531331.1:p.Val636=
XM_011533030.1:c.1904T=	XP_011531332.1:p.Val635=
XM_011533030.2:c.1904T=	XP_011531332.1:p.Val635=
XM_011533031.1:c.1679T=	XP_011531333.1:p.Val560=
XR_001738891.1:n.2411T=
XR_939707.1:n.2397T=
XR_939707.2:n.2411T=