Canonical Allele Identifier: CA2493965162
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43877848G= , CM000664.2:g.43877848G= GRCh38
NC_000002.11:g.44104987G= , CM000664.1:g.44104987G= GRCh37
NC_000002.10:g.43958491G= NCBI36
NG_008884.1:g.43885G=
NG_008884.2:g.50907G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.1957G= MANE Select ENSP00000272286.2:p.Gly653=
ENST00000272286.2:c.1957G= ENSP00000272286.2:p.Gly653=
NM_022437.2:c.1957G= NP_071882.1:p.Gly653=
XM_005264483.2:c.1954G= XP_005264540.1:p.Gly652=
XM_011533029.1:c.1969G= XP_011531331.1:p.Gly657=
XM_011533030.1:c.1966G= XP_011531332.1:p.Gly656=
XM_011533031.1:c.1741G= XP_011531333.1:p.Gly581=
XR_939707.1:n.2459G=
NM_001357321.1:c.1954G= NP_001344250.1:p.Gly652=
XM_011533029.2:c.1969G= XP_011531331.1:p.Gly657=
XM_011533030.2:c.1966G= XP_011531332.1:p.Gly656=
XR_001738891.1:n.2473G=
XR_939707.2:n.2473G=
NM_022437.3:c.1957G= MANE Select NP_071882.1:p.Gly653=
NM_001357321.2:c.1954G= NP_001344250.1:p.Gly652=