Canonical Allele Identifier: CA2493941435

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839365T= , CM000664.2:g.43839365T=	GRCh38
NC_000002.11:g.44066504T= , CM000664.1:g.44066504T=	GRCh37
NC_000002.10:g.43920008T=	NCBI36
NG_008883.1:g.4455A=
NG_008884.1:g.5402T=
NG_008884.2:g.12424T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.63+249T= MANE Select	ENSP00000272286.2:n.63+249T=
ENST00000643284.1:n.521-5142T=
ENST00000644611.1:c.76-5142T=	ENSP00000495423.1:n.76-5142T=
ENST00000272286.2:c.63+249T=	ENSP00000272286.2:n.63+249T=
NM_022437.2:c.63+249T=	NP_071882.1:n.63+249T=
XM_005264483.2:c.63+249T=	XP_005264540.1:n.63+249T=
XM_011533029.1:c.76-5142T=	XP_011531331.1:n.76-5142T=
XM_011533030.1:c.76-5142T=	XP_011531332.1:n.76-5142T=
XM_011533031.1:c.-153-5142T=	XP_011531333.1:n.-153-5142T=
XR_939707.1:n.566-5142T=
NM_001357321.1:c.63+249T=	NP_001344250.1:n.63+249T=
XM_011533029.2:c.76-5142T=	XP_011531331.1:n.76-5142T=
XM_011533030.2:c.76-5142T=	XP_011531332.1:n.76-5142T=
XR_001738891.1:n.580-5142T=
XR_939707.2:n.580-5142T=
NM_022437.3:c.63+249T= MANE Select	NP_071882.1:n.63+249T=
NM_001357321.2:c.63+249T=	NP_001344250.1:n.63+249T=