Canonical Allele Identifier: CA253365
Gene: ABCG8 HGNC NCBI

Linked Data

ClinVar Variation Id: 4971
ClinVar RCV Id: RCV000005259 RCV000726960
dbSNP Id: rs387906323
ExAC: 2:44078944 GC / G
gnomAD v2: 2-44078944-GC-G
gnomAD v3: 2-43851805-GC-G
gnomAD v4: 2-43851805-GC-G
MyVariant Identifiers: chr2:g.44078947del (hg19) chr2:g.44078945del (hg19) chr2:g.43851808del (hg38) chr2:g.43851806del (hg38)
PubMed: PMID:11099417
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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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