Canonical Allele Identifier: CA1636883
Gene: ABCG8 HGNC NCBI

Linked Data

ClinVar Variation Id: 498839
dbSNP Id: rs138925418
gnomAD v2: 2-44071658-A-G
gnomAD v3: 2-43844519-A-G
gnomAD v4: 2-43844519-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43844519A>G , CM000664.2:g.43844519A>G GRCh38
NC_000002.11:g.44071658A>G , CM000664.1:g.44071658A>G GRCh37
NC_000002.10:g.43925162A>G NCBI36
NG_008884.1:g.10556A>G
NG_008884.2:g.17578A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.76A>G MANE Select ENSP00000272286.2:p.Arg26Gly
ENST00000643284.1:n.533A>G
ENST00000644611.1:c.88A>G ENSP00000495423.1:p.Arg30Gly
ENST00000272286.2:c.76A>G ENSP00000272286.2:p.Arg26Gly
NM_022437.2:c.76A>G NP_071882.1:p.Arg26Gly
XM_005264483.2:c.76A>G XP_005264540.1:p.Arg26Gly
XM_011533029.1:c.88A>G XP_011531331.1:p.Arg30Gly
XM_011533030.1:c.88A>G XP_011531332.1:p.Arg30Gly
XM_011533031.1:c.-141A>G XP_011531333.1:n.-141A>G
XR_939707.1:n.578A>G
XR_940032.1:n.2T>C
NM_001357321.1:c.76A>G NP_001344250.1:p.Arg26Gly
XM_011533029.2:c.88A>G XP_011531331.1:p.Arg30Gly
XM_011533030.2:c.88A>G XP_011531332.1:p.Arg30Gly
XR_001738891.1:n.592A>G
XR_939707.2:n.592A>G
XR_940032.3:n.2T>C
NM_022437.3:c.76A>G MANE Select NP_071882.1:p.Arg26Gly
NM_001357321.2:c.76A>G NP_001344250.1:p.Arg26Gly