Canonical Allele Identifier: CA2747975
Gene: ADIPOQ HGNC NCBI
ADIPOQ-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.186854300T>C
GRCh37 chr3:g.186572089T>C
Revel Score:
ENST00000412955 0.075
ENST00000320741 (MANE Select) 0.075
ENST00000444204 0.075
gnomAD v2:
3:186572089 T / C
gnomAD v3:
3:186854300 T / C
gnomAD v4:
chr3-186854300-T-C
Joint Max Group AF 0.03150556 (NFE)
Genomes Max Group AF 0.02860201 (NFE)
Exomes Max Group AF 0.0316253 (NFE)
ClinVar RCV:
RCV003924309
ClinVar Variation:
3042029
dbSNP:
17366743
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186854300T>C , CM000665.2:g.186854300T>C GRCh38
NC_000003.11:g.186572089T>C , CM000665.1:g.186572089T>C GRCh37
NC_000003.10:g.188054783T>C NCBI36
NG_021140.1:g.16627T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320741.7:c.331T>C (ADIPOQ) MANE Select ENSP00000320709.2:p.Tyr111His
ENST00000320741.6:c.331T>C (ADIPOQ) ENSP00000320709.2:p.Tyr111His
ENST00000444204.2:c.331T>C (ADIPOQ) ENSP00000389814.2:p.Tyr111His
NM_001177800.1:c.331T>C (ADIPOQ) NP_001171271.1:p.Tyr111His
NM_004797.3:c.331T>C (ADIPOQ) NP_004788.1:p.Tyr111His
NR_046662.1:n.1824A>G (ADIPOQ-AS1)
XM_011513324.1:c.331T>C (ADIPOQ) XP_011511626.1:p.Tyr111His
NR_046662.2:n.1953A>G (ADIPOQ-AS1)
NM_004797.4:c.331T>C (ADIPOQ) MANE Select NP_004788.1:p.Tyr111His
NM_001177800.2:c.331T>C (ADIPOQ) NP_001171271.1:p.Tyr111His
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