Canonical Allele Identifier: CA2493965010

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877578A= , CM000664.2:g.43877578A=	GRCh38
NC_000002.11:g.44104717A= , CM000664.1:g.44104717A=	GRCh37
NC_000002.10:g.43958221A=	NCBI36
NG_008884.1:g.43615A=
NG_008884.2:g.50637A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1774A= MANE Select	ENSP00000272286.2:p.Lys592=
ENST00000272286.2:c.1774A=	ENSP00000272286.2:p.Lys592=
NM_022437.2:c.1774A=	NP_071882.1:p.Lys592=
XM_005264483.2:c.1771A=	XP_005264540.1:p.Lys591=
XM_011533029.1:c.1786A=	XP_011531331.1:p.Lys596=
XM_011533030.1:c.1783A=	XP_011531332.1:p.Lys595=
XM_011533031.1:c.1558A=	XP_011531333.1:p.Lys520=
XR_939707.1:n.2276A=
NM_001357321.1:c.1771A=	NP_001344250.1:p.Lys591=
XM_011533029.2:c.1786A=	XP_011531331.1:p.Lys596=
XM_011533030.2:c.1783A=	XP_011531332.1:p.Lys595=
XR_001738891.1:n.2290A=
XR_939707.2:n.2290A=
NM_022437.3:c.1774A= MANE Select	NP_071882.1:p.Lys592=
NM_001357321.2:c.1771A=	NP_001344250.1:p.Lys591=