Canonical Allele Identifier: CA2493944750
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43845437G= , CM000664.2:g.43845437G= GRCh38
NC_000002.11:g.44072576G= , CM000664.1:g.44072576G= GRCh37
NC_000002.10:g.43926080G= NCBI36
NG_008884.1:g.11474G=
NG_008884.2:g.18496G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.166-718G= MANE Select ENSP00000272286.2:n.166-718G=
ENST00000643284.1:n.623-718G=
ENST00000644611.1:c.178-718G= ENSP00000495423.1:n.178-718G=
ENST00000272286.2:c.166-718G= ENSP00000272286.2:n.166-718G=
NM_022437.2:c.166-718G= NP_071882.1:n.166-718G=
XM_005264483.2:c.166-718G= XP_005264540.1:n.166-718G=
XM_011533029.1:c.178-718G= XP_011531331.1:n.178-718G=
XM_011533030.1:c.178-718G= XP_011531332.1:n.178-718G=
XM_011533031.1:c.-51-718G= XP_011531333.1:n.-51-718G=
XR_939707.1:n.668-718G=
NM_001357321.1:c.166-718G= NP_001344250.1:n.166-718G=
XM_011533029.2:c.178-718G= XP_011531331.1:n.178-718G=
XM_011533030.2:c.178-718G= XP_011531332.1:n.178-718G=
XR_001738891.1:n.682-718G=
XR_939707.2:n.682-718G=
NM_022437.3:c.166-718G= MANE Select NP_071882.1:n.166-718G=
NM_001357321.2:c.166-718G= NP_001344250.1:n.166-718G=