Canonical Allele Identifier: CA2493941077
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43838938C= , CM000664.2:g.43838938C= GRCh38
NC_000002.11:g.44066077C= , CM000664.1:g.44066077C= GRCh37
NC_000002.10:g.43919581C= NCBI36
NG_008883.1:g.4882G=
NG_008884.1:g.4975C=
NG_008884.2:g.11997C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000643284.1:n.521-5569C=
ENST00000644611.1:c.76-5569C= ENSP00000495423.1:n.76-5569C=
XM_011533029.1:c.76-5569C= XP_011531331.1:n.76-5569C=
XM_011533030.1:c.76-5569C= XP_011531332.1:n.76-5569C=
XM_011533031.1:c.-153-5569C= XP_011531333.1:n.-153-5569C=
XR_939707.1:n.566-5569C=
XM_011533029.2:c.76-5569C= XP_011531331.1:n.76-5569C=
XM_011533030.2:c.76-5569C= XP_011531332.1:n.76-5569C=
XR_001738891.1:n.580-5569C=
XR_939707.2:n.580-5569C=