Canonical Allele Identifier: CA253364
Gene: ABCG8 HGNC NCBI
ClinVar RCV:
RCV000005258
RCV000727975
RCV003407279
ClinVar Variation:
4970
dbSNP:
137852990
gnomAD v2:
2:44079831 G / A
gnomAD v3:
2:43852692 G / A
gnomAD v4:
chr2-43852692-G-A
Joint Max Group AF 0.0005568 (EAS)
Genomes Max Group AF 0.00063279 (EAS)
Exomes Max Group AF 0.00047985 (EAS)
MyVariant.info:
GRCh38 chr2:g.43852692G>A
GRCh37 chr2:g.44079831G>A
Revel Score:
ENST00000272286 (MANE Select) 0.511
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43852692G>A , CM000664.2:g.43852692G>A GRCh38
NC_000002.11:g.44079831G>A , CM000664.1:g.44079831G>A GRCh37
NC_000002.10:g.43933335G>A NCBI36
NG_008884.1:g.18729G>A
NG_008884.2:g.25751G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.788G>A MANE Select ENSP00000272286.2:p.Arg263Gln
ENST00000644611.1:c.800G>A ENSP00000495423.1:p.Arg267Gln
ENST00000272286.2:c.788G>A ENSP00000272286.2:p.Arg263Gln
NM_022437.2:c.788G>A NP_071882.1:p.Arg263Gln
XM_005264483.2:c.788G>A XP_005264540.1:p.Arg263Gln
XM_011533029.1:c.800G>A XP_011531331.1:p.Arg267Gln
XM_011533030.1:c.800G>A XP_011531332.1:p.Arg267Gln
XM_011533031.1:c.572G>A XP_011531333.1:p.Arg191Gln
XR_939707.1:n.1290G>A
NM_001357321.1:c.788G>A NP_001344250.1:p.Arg263Gln
XM_011533029.2:c.800G>A XP_011531331.1:p.Arg267Gln
XM_011533030.2:c.800G>A XP_011531332.1:p.Arg267Gln
XR_001738891.1:n.1304G>A
XR_939707.2:n.1304G>A
NM_022437.3:c.788G>A MANE Select NP_071882.1:p.Arg263Gln
NM_001357321.2:c.788G>A NP_001344250.1:p.Arg263Gln
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