Canonical Allele Identifier: CA253365
Gene: ABCG8 HGNC NCBI
gnomAD v2:
2:44078944 GC / G
gnomAD v3:
2:43851805 GC / G
gnomAD v4:
chr2-43851805-GC-G
Joint Max Group AF 0.0002481 (AMR)
Genomes Max Group AF 0.0000226 (AMR)
Exomes Max Group AF 0.00029574 (AMR)
ClinVar RCV:
RCV000005259
RCV000726960
ClinVar Variation:
4971
dbSNP:
387906323
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43851808del , CM000664.2:g.43851808del GRCh38
NC_000002.11:g.44078947del , CM000664.1:g.44078947del GRCh37
NC_000002.10:g.43932451del NCBI36
NG_008884.1:g.17845del
NG_008884.2:g.24867del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.547del MANE Select ENSP00000272286.2:p.Gln183SerfsTer9
ENST00000644611.1:c.559del ENSP00000495423.1:p.Gln187SerfsTer9
ENST00000272286.2:c.547del ENSP00000272286.2:p.Gln183SerfsTer9
NM_022437.2:c.547del NP_071882.1:p.Gln183SerfsTer9
XM_005264483.2:c.547del XP_005264540.1:p.Gln183SerfsTer9
XM_011533029.1:c.559del XP_011531331.1:p.Gln187SerfsTer9
XM_011533030.1:c.559del XP_011531332.1:p.Gln187SerfsTer9
XM_011533031.1:c.331del XP_011531333.1:p.Gln111SerfsTer9
XR_939707.1:n.1049del
NM_001357321.1:c.547del NP_001344250.1:p.Gln183SerfsTer9
XM_011533029.2:c.559del XP_011531331.1:p.Gln187SerfsTer9
XM_011533030.2:c.559del XP_011531332.1:p.Gln187SerfsTer9
XR_001738891.1:n.1063del
XR_939707.2:n.1063del
NM_022437.3:c.547del MANE Select NP_071882.1:p.Gln183SerfsTer9
NM_001357321.2:c.547del NP_001344250.1:p.Gln183SerfsTer9
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