Canonical Allele Identifier: CA2493944292
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43844608G= , CM000664.2:g.43844608G= GRCh38
NC_000002.11:g.44071747G= , CM000664.1:g.44071747G= GRCh37
NC_000002.10:g.43925251G= NCBI36
NG_008884.1:g.10645G=
NG_008884.2:g.17667G=

Transcript Alleles

HGVS Amino-acid change
ENST00000272286.4:c.165G= MANE Select ENSP00000272286.2:p.Gln55=
ENST00000643284.1:n.622G=
ENST00000644611.1:c.177G= ENSP00000495423.1:p.Gln59=
ENST00000272286.2:c.165G= ENSP00000272286.2:p.Gln55=
NM_022437.2:c.165G= NP_071882.1:p.Gln55=
XM_005264483.2:c.165G= XP_005264540.1:p.Gln55=
XM_011533029.1:c.177G= XP_011531331.1:p.Gln59=
XM_011533030.1:c.177G= XP_011531332.1:p.Gln59=
XM_011533031.1:c.-52G= XP_011531333.1:n.-52G=
XR_939707.1:n.667G=
NM_001357321.1:c.165G= NP_001344250.1:p.Gln55=
XM_011533029.2:c.177G= XP_011531331.1:p.Gln59=
XM_011533030.2:c.177G= XP_011531332.1:p.Gln59=
XR_001738891.1:n.681G=
XR_939707.2:n.681G=
NM_022437.3:c.165G= MANE Select NP_071882.1:p.Gln55=
NM_001357321.2:c.165G= NP_001344250.1:p.Gln55=