Canonical Allele Identifier: CA1636938
Gene: ABCG8 HGNC NCBI

Linked Data

dbSNP Id: rs771923992
gnomAD v2: 2-44073326-G-C
gnomAD v4: 2-43846187-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43846187G>C , CM000664.2:g.43846187G>C GRCh38
NC_000002.11:g.44073326G>C , CM000664.1:g.44073326G>C GRCh37
NC_000002.10:g.43926830G>C NCBI36
NG_008884.1:g.12224G>C
NG_008884.2:g.19246G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.198G>C MANE Select ENSP00000272286.2:p.Glu66Asp
ENST00000643284.1:n.655G>C
ENST00000644611.1:c.210G>C ENSP00000495423.1:p.Glu70Asp
ENST00000272286.2:c.198G>C ENSP00000272286.2:p.Glu66Asp
NM_022437.2:c.198G>C NP_071882.1:p.Glu66Asp
XM_005264483.2:c.198G>C XP_005264540.1:p.Glu66Asp
XM_011533029.1:c.210G>C XP_011531331.1:p.Glu70Asp
XM_011533030.1:c.210G>C XP_011531332.1:p.Glu70Asp
XM_011533031.1:c.-19G>C XP_011531333.1:n.-19G>C
XR_939707.1:n.700G>C
NM_001357321.1:c.198G>C NP_001344250.1:p.Glu66Asp
XM_011533029.2:c.210G>C XP_011531331.1:p.Glu70Asp
XM_011533030.2:c.210G>C XP_011531332.1:p.Glu70Asp
XR_001738891.1:n.714G>C
XR_939707.2:n.714G>C
NM_022437.3:c.198G>C MANE Select NP_071882.1:p.Glu66Asp
NM_001357321.2:c.198G>C NP_001344250.1:p.Glu66Asp