Canonical Allele Identifier: CA2493963489
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43875015A= , CM000664.2:g.43875015A= GRCh38
NC_000002.11:g.44102154A= , CM000664.1:g.44102154A= GRCh37
NC_000002.10:g.43955658A= NCBI36
NG_008884.1:g.41052A=
NG_008884.2:g.48074A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.1489-131A= MANE Select ENSP00000272286.2:n.1489-131A=
ENST00000272286.2:c.1489-131A= ENSP00000272286.2:n.1489-131A=
NM_022437.2:c.1489-131A= NP_071882.1:n.1489-131A=
XM_005264483.2:c.1486-131A= XP_005264540.1:n.1486-131A=
XM_011533029.1:c.1501-131A= XP_011531331.1:n.1501-131A=
XM_011533030.1:c.1498-131A= XP_011531332.1:n.1498-131A=
XM_011533031.1:c.1273-131A= XP_011531333.1:n.1273-131A=
XR_939707.1:n.1991-131A=
NM_001357321.1:c.1486-131A= NP_001344250.1:n.1486-131A=
XM_011533029.2:c.1501-131A= XP_011531331.1:n.1501-131A=
XM_011533030.2:c.1498-131A= XP_011531332.1:n.1498-131A=
XR_001738891.1:n.2005-131A=
XR_939707.2:n.2005-131A=
NM_022437.3:c.1489-131A= MANE Select NP_071882.1:n.1489-131A=
NM_001357321.2:c.1486-131A= NP_001344250.1:n.1486-131A=