Canonical Allele Identifier: CA2493965161
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43877847T= , CM000664.2:g.43877847T= GRCh38
NC_000002.11:g.44104986T= , CM000664.1:g.44104986T= GRCh37
NC_000002.10:g.43958490T= NCBI36
NG_008884.1:g.43884T=
NG_008884.2:g.50906T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.1956T= MANE Select ENSP00000272286.2:p.Gly652=
ENST00000272286.2:c.1956T= ENSP00000272286.2:p.Gly652=
NM_022437.2:c.1956T= NP_071882.1:p.Gly652=
XM_005264483.2:c.1953T= XP_005264540.1:p.Gly651=
XM_011533029.1:c.1968T= XP_011531331.1:p.Gly656=
XM_011533030.1:c.1965T= XP_011531332.1:p.Gly655=
XM_011533031.1:c.1740T= XP_011531333.1:p.Gly580=
XR_939707.1:n.2458T=
NM_001357321.1:c.1953T= NP_001344250.1:p.Gly651=
XM_011533029.2:c.1968T= XP_011531331.1:p.Gly656=
XM_011533030.2:c.1965T= XP_011531332.1:p.Gly655=
XR_001738891.1:n.2472T=
XR_939707.2:n.2472T=
NM_022437.3:c.1956T= MANE Select NP_071882.1:p.Gly652=
NM_001357321.2:c.1953T= NP_001344250.1:p.Gly651=