Canonical Allele Identifier: CA532703121
Gene: ABCG8 HGNC NCBI

Linked Data

dbSNP Id: rs562516813
gnomAD v2: 2-44073593-C-A
gnomAD v3: 2-43846454-C-A
gnomAD v4: 2-43846454-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43846454C>A , CM000664.2:g.43846454C>A GRCh38
NC_000002.11:g.44073593C>A , CM000664.1:g.44073593C>A GRCh37
NC_000002.10:g.43927097C>A NCBI36
NG_008884.1:g.12491C>A
NG_008884.2:g.19513C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272286.4:c.322+143C>A MANE Select ENSP00000272286.2:n.322+143C>A
ENST00000643284.1:n.922C>A
ENST00000644611.1:c.334+143C>A ENSP00000495423.1:n.334+143C>A
ENST00000272286.2:c.322+143C>A ENSP00000272286.2:n.322+143C>A
NM_022437.2:c.322+143C>A NP_071882.1:n.322+143C>A
XM_005264483.2:c.322+143C>A XP_005264540.1:n.322+143C>A
XM_011533029.1:c.334+143C>A XP_011531331.1:n.334+143C>A
XM_011533030.1:c.334+143C>A XP_011531332.1:n.334+143C>A
XM_011533031.1:c.106+143C>A XP_011531333.1:n.106+143C>A
XR_939707.1:n.824+143C>A
NM_001357321.1:c.322+143C>A NP_001344250.1:n.322+143C>A
XM_011533029.2:c.334+143C>A XP_011531331.1:n.334+143C>A
XM_011533030.2:c.334+143C>A XP_011531332.1:n.334+143C>A
XR_001738891.1:n.838+143C>A
XR_939707.2:n.838+143C>A
NM_022437.3:c.322+143C>A MANE Select NP_071882.1:n.322+143C>A
NM_001357321.2:c.322+143C>A NP_001344250.1:n.322+143C>A