Canonical Allele Identifier: CA2493944246
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43844507G= , CM000664.2:g.43844507G= GRCh38
NC_000002.11:g.44071646G= , CM000664.1:g.44071646G= GRCh37
NC_000002.10:g.43925150G= NCBI36
NG_008884.1:g.10544G=
NG_008884.2:g.17566G=

Transcript Alleles

HGVS Amino-acid change
ENST00000272286.4:c.64G= MANE Select ENSP00000272286.2:p.Gly22=
ENST00000643284.1:n.521G=
ENST00000644611.1:c.76G= ENSP00000495423.1:p.Gly26=
ENST00000272286.2:c.64G= ENSP00000272286.2:p.Gly22=
NM_022437.2:c.64G= NP_071882.1:p.Gly22=
XM_005264483.2:c.64G= XP_005264540.1:p.Gly22=
XM_011533029.1:c.76G= XP_011531331.1:p.Gly26=
XM_011533030.1:c.76G= XP_011531332.1:p.Gly26=
XM_011533031.1:c.-153G= XP_011531333.1:n.-153G=
XR_939707.1:n.566G=
XR_940032.1:n.14C=
NM_001357321.1:c.64G= NP_001344250.1:p.Gly22=
XM_011533029.2:c.76G= XP_011531331.1:p.Gly26=
XM_011533030.2:c.76G= XP_011531332.1:p.Gly26=
XR_001738891.1:n.580G=
XR_939707.2:n.580G=
XR_940032.3:n.14C=
NM_022437.3:c.64G= MANE Select NP_071882.1:p.Gly22=
NM_001357321.2:c.64G= NP_001344250.1:p.Gly22=