Canonical Allele Identifier: CA2493941074

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43838937C= , CM000664.2:g.43838937C=	GRCh38
NC_000002.11:g.44066076C= , CM000664.1:g.44066076C=	GRCh37
NC_000002.10:g.43919580C=	NCBI36
NG_008883.1:g.4883G=
NG_008884.1:g.4974C=
NG_008884.2:g.11996C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643284.1:n.521-5570C=
ENST00000644611.1:c.76-5570C=	ENSP00000495423.1:n.76-5570C=
XM_011533029.1:c.76-5570C=	XP_011531331.1:n.76-5570C=
XM_011533030.1:c.76-5570C=	XP_011531332.1:n.76-5570C=
XM_011533031.1:c.-153-5570C=	XP_011531333.1:n.-153-5570C=
XR_939707.1:n.566-5570C=
XM_011533029.2:c.76-5570C=	XP_011531331.1:n.76-5570C=
XM_011533030.2:c.76-5570C=	XP_011531332.1:n.76-5570C=
XR_001738891.1:n.580-5570C=
XR_939707.2:n.580-5570C=