Canonical Allele Identifier: CA2493945300
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43846542C= , CM000664.2:g.43846542C= GRCh38
NC_000002.11:g.44073681C= , CM000664.1:g.44073681C= GRCh37
NC_000002.10:g.43927185C= NCBI36
NG_008884.1:g.12579C=
NG_008884.2:g.19601C=

Transcript Alleles

HGVS Amino-acid change
ENST00000272286.4:c.322+231C= MANE Select ENSP00000272286.2:n.322+231C=
ENST00000643284.1:n.1010C=
ENST00000644611.1:c.334+231C= ENSP00000495423.1:n.334+231C=
ENST00000272286.2:c.322+231C= ENSP00000272286.2:n.322+231C=
NM_022437.2:c.322+231C= NP_071882.1:n.322+231C=
XM_005264483.2:c.322+231C= XP_005264540.1:n.322+231C=
XM_011533029.1:c.334+231C= XP_011531331.1:n.334+231C=
XM_011533030.1:c.334+231C= XP_011531332.1:n.334+231C=
XM_011533031.1:c.106+231C= XP_011531333.1:n.106+231C=
XR_939707.1:n.824+231C=
NM_001357321.1:c.322+231C= NP_001344250.1:n.322+231C=
XM_011533029.2:c.334+231C= XP_011531331.1:n.334+231C=
XM_011533030.2:c.334+231C= XP_011531332.1:n.334+231C=
XR_001738891.1:n.838+231C=
XR_939707.2:n.838+231C=
NM_022437.3:c.322+231C= MANE Select NP_071882.1:n.322+231C=
NM_001357321.2:c.322+231C= NP_001344250.1:n.322+231C=