Canonical Allele Identifier: CA2493963664
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43875288T= , CM000664.2:g.43875288T= GRCh38
NC_000002.11:g.44102427T= , CM000664.1:g.44102427T= GRCh37
NC_000002.10:g.43955931T= NCBI36
NG_008884.1:g.41325T=
NG_008884.2:g.48347T=

Transcript Alleles

HGVS Amino-acid change
ENST00000272286.4:c.1631T= MANE Select ENSP00000272286.2:p.Ile544=
ENST00000272286.2:c.1631T= ENSP00000272286.2:p.Ile544=
NM_022437.2:c.1631T= NP_071882.1:p.Ile544=
XM_005264483.2:c.1628T= XP_005264540.1:p.Ile543=
XM_011533029.1:c.1643T= XP_011531331.1:p.Ile548=
XM_011533030.1:c.1640T= XP_011531332.1:p.Ile547=
XM_011533031.1:c.1415T= XP_011531333.1:p.Ile472=
XR_939707.1:n.2133T=
NM_001357321.1:c.1628T= NP_001344250.1:p.Ile543=
XM_011533029.2:c.1643T= XP_011531331.1:p.Ile548=
XM_011533030.2:c.1640T= XP_011531332.1:p.Ile547=
XR_001738891.1:n.2147T=
XR_939707.2:n.2147T=
NM_022437.3:c.1631T= MANE Select NP_071882.1:p.Ile544=
NM_001357321.2:c.1628T= NP_001344250.1:p.Ile543=