Canonical Allele Identifier: CA2493945277

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846508T= , CM000664.2:g.43846508T=	GRCh38
NC_000002.11:g.44073647T= , CM000664.1:g.44073647T=	GRCh37
NC_000002.10:g.43927151T=	NCBI36
NG_008884.1:g.12545T=
NG_008884.2:g.19567T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.322+197T= MANE Select	ENSP00000272286.2:n.322+197T=
ENST00000643284.1:n.976T=
ENST00000644611.1:c.334+197T=	ENSP00000495423.1:n.334+197T=
ENST00000272286.2:c.322+197T=	ENSP00000272286.2:n.322+197T=
NM_022437.2:c.322+197T=	NP_071882.1:n.322+197T=
XM_005264483.2:c.322+197T=	XP_005264540.1:n.322+197T=
XM_011533029.1:c.334+197T=	XP_011531331.1:n.334+197T=
XM_011533030.1:c.334+197T=	XP_011531332.1:n.334+197T=
XM_011533031.1:c.106+197T=	XP_011531333.1:n.106+197T=
XR_939707.1:n.824+197T=
NM_001357321.1:c.322+197T=	NP_001344250.1:n.322+197T=
XM_011533029.2:c.334+197T=	XP_011531331.1:n.334+197T=
XM_011533030.2:c.334+197T=	XP_011531332.1:n.334+197T=
XR_001738891.1:n.838+197T=
XR_939707.2:n.838+197T=
NM_022437.3:c.322+197T= MANE Select	NP_071882.1:n.322+197T=
NM_001357321.2:c.322+197T=	NP_001344250.1:n.322+197T=