Canonical Allele Identifier: CA2493965273
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43878037G= , CM000664.2:g.43878037G= GRCh38
NC_000002.11:g.44105176G= , CM000664.1:g.44105176G= GRCh37
NC_000002.10:g.43958680G= NCBI36
NG_008884.1:g.44074G=
NG_008884.2:g.51096G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.*124G= MANE Select ENSP00000272286.2:n.*124G=
ENST00000272286.2:c.*124G= ENSP00000272286.2:n.*124G=
NM_022437.2:c.*124G= NP_071882.1:n.*124G=
XM_005264483.2:c.*124G= XP_005264540.1:n.*124G=
XM_011533029.1:c.*124G= XP_011531331.1:n.*124G=
XM_011533030.1:c.*124G= XP_011531332.1:n.*124G=
XM_011533031.1:c.*124G= XP_011531333.1:n.*124G=
XR_939707.1:n.2648G=
NM_001357321.1:c.*124G= NP_001344250.1:n.*124G=
XM_011533029.2:c.*124G= XP_011531331.1:n.*124G=
XM_011533030.2:c.*124G= XP_011531332.1:n.*124G=
XR_001738891.1:n.2662G=
XR_939707.2:n.2662G=
NM_022437.3:c.*124G= MANE Select NP_071882.1:n.*124G=
NM_001357321.2:c.*124G= NP_001344250.1:n.*124G=