Canonical Allele Identifier: CA2493945336

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846630C= , CM000664.2:g.43846630C=	GRCh38
NC_000002.11:g.44073769C= , CM000664.1:g.44073769C=	GRCh37
NC_000002.10:g.43927273C=	NCBI36
NG_008884.1:g.12667C=
NG_008884.2:g.19689C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.322+319C= MANE Select	ENSP00000272286.2:n.322+319C=
ENST00000643284.1:n.1098C=
ENST00000644611.1:c.334+319C=	ENSP00000495423.1:n.334+319C=
ENST00000272286.2:c.322+319C=	ENSP00000272286.2:n.322+319C=
NM_022437.2:c.322+319C=	NP_071882.1:n.322+319C=
XM_005264483.2:c.322+319C=	XP_005264540.1:n.322+319C=
XM_011533029.1:c.334+319C=	XP_011531331.1:n.334+319C=
XM_011533030.1:c.334+319C=	XP_011531332.1:n.334+319C=
XM_011533031.1:c.106+319C=	XP_011531333.1:n.106+319C=
XR_939707.1:n.824+319C=
NM_001357321.1:c.322+319C=	NP_001344250.1:n.322+319C=
XM_011533029.2:c.334+319C=	XP_011531331.1:n.334+319C=
XM_011533030.2:c.334+319C=	XP_011531332.1:n.334+319C=
XR_001738891.1:n.838+319C=
XR_939707.2:n.838+319C=
NM_022437.3:c.322+319C= MANE Select	NP_071882.1:n.322+319C=
NM_001357321.2:c.322+319C=	NP_001344250.1:n.322+319C=