Canonical Allele Identifier: CA2493945166

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846300T= , CM000664.2:g.43846300T=	GRCh38
NC_000002.11:g.44073439T= , CM000664.1:g.44073439T=	GRCh37
NC_000002.10:g.43926943T=	NCBI36
NG_008884.1:g.12337T=
NG_008884.2:g.19359T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.311T= MANE Select	ENSP00000272286.2:p.Ile104=
ENST00000643284.1:n.768T=
ENST00000644611.1:c.323T=	ENSP00000495423.1:p.Ile108=
ENST00000272286.2:c.311T=	ENSP00000272286.2:p.Ile104=
NM_022437.2:c.311T=	NP_071882.1:p.Ile104=
XM_005264483.2:c.311T=	XP_005264540.1:p.Ile104=
XM_011533029.1:c.323T=	XP_011531331.1:p.Ile108=
XM_011533030.1:c.323T=	XP_011531332.1:p.Ile108=
XM_011533031.1:c.95T=	XP_011531333.1:p.Ile32=
XR_939707.1:n.813T=
NM_001357321.1:c.311T=	NP_001344250.1:p.Ile104=
XM_011533029.2:c.323T=	XP_011531331.1:p.Ile108=
XM_011533030.2:c.323T=	XP_011531332.1:p.Ile108=
XR_001738891.1:n.827T=
XR_939707.2:n.827T=
NM_022437.3:c.311T= MANE Select	NP_071882.1:p.Ile104=
NM_001357321.2:c.311T=	NP_001344250.1:p.Ile104=