Canonical Allele Identifier: CA2493965069
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43877681G= , CM000664.2:g.43877681G= GRCh38
NC_000002.11:g.44104820G= , CM000664.1:g.44104820G= GRCh37
NC_000002.10:g.43958324G= NCBI36
NG_008884.1:g.43718G=
NG_008884.2:g.50740G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.1877G= MANE Select ENSP00000272286.2:p.Gly626=
ENST00000272286.2:c.1877G= ENSP00000272286.2:p.Gly626=
NM_022437.2:c.1877G= NP_071882.1:p.Gly626=
XM_005264483.2:c.1874G= XP_005264540.1:p.Gly625=
XM_011533029.1:c.1889G= XP_011531331.1:p.Gly630=
XM_011533030.1:c.1886G= XP_011531332.1:p.Gly629=
XM_011533031.1:c.1661G= XP_011531333.1:p.Gly554=
XR_939707.1:n.2379G=
NM_001357321.1:c.1874G= NP_001344250.1:p.Gly625=
XM_011533029.2:c.1889G= XP_011531331.1:p.Gly630=
XM_011533030.2:c.1886G= XP_011531332.1:p.Gly629=
XR_001738891.1:n.2393G=
XR_939707.2:n.2393G=
NM_022437.3:c.1877G= MANE Select NP_071882.1:p.Gly626=
NM_001357321.2:c.1874G= NP_001344250.1:p.Gly625=