Canonical Allele Identifier: CA2493963517
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43875047G= , CM000664.2:g.43875047G= GRCh38
NC_000002.11:g.44102186G= , CM000664.1:g.44102186G= GRCh37
NC_000002.10:g.43955690G= NCBI36
NG_008884.1:g.41084G=
NG_008884.2:g.48106G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.1489-99G= MANE Select ENSP00000272286.2:n.1489-99G=
ENST00000272286.2:c.1489-99G= ENSP00000272286.2:n.1489-99G=
NM_022437.2:c.1489-99G= NP_071882.1:n.1489-99G=
XM_005264483.2:c.1486-99G= XP_005264540.1:n.1486-99G=
XM_011533029.1:c.1501-99G= XP_011531331.1:n.1501-99G=
XM_011533030.1:c.1498-99G= XP_011531332.1:n.1498-99G=
XM_011533031.1:c.1273-99G= XP_011531333.1:n.1273-99G=
XR_939707.1:n.1991-99G=
NM_001357321.1:c.1486-99G= NP_001344250.1:n.1486-99G=
XM_011533029.2:c.1501-99G= XP_011531331.1:n.1501-99G=
XM_011533030.2:c.1498-99G= XP_011531332.1:n.1498-99G=
XR_001738891.1:n.2005-99G=
XR_939707.2:n.2005-99G=
NM_022437.3:c.1489-99G= MANE Select NP_071882.1:n.1489-99G=
NM_001357321.2:c.1486-99G= NP_001344250.1:n.1486-99G=