Canonical Allele Identifier: CA214288
Gene: HNF1A HGNC NCBI
ClinGen Evidence Repository:
Classification Likely Benign
Condition monogenic diabetes
VCEP Monogenic Diabetes VCEP
MyVariant.info:
GRCh38 chr12:g.120999604A>G
GRCh37 chr12:g.121437407A>G
Revel Score:
ENST00000257555 (MANE Select) 0.687
ENST00000535125 0.687
ENST00000537424 0.687
ENST00000543027 0.687
ENST00000541395 0.687
ENST00000544413 0.687
gnomAD v2:
12:121437407 A / G
gnomAD v3:
12:120999604 A / G
gnomAD v4:
chr12-120999604-A-G
Joint Max Group AF 0.00002748 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00002986 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120999604A>G , CM000674.2:g.120999604A>G GRCh38
NC_000012.11:g.121437407A>G , CM000674.1:g.121437407A>G GRCh37
NC_000012.10:g.119921790A>G NCBI36
NG_011731.2:g.25859A>G , LRG_522:g.25859A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*492A>G ENSP00000453965.2:n.*492A>G
ENST00000257555.11:c.1745A>G MANE Select ENSP00000257555.5:p.His582Arg
ENST00000257555.10:c.1745A>G ENSP00000257555.4:p.His582Arg
ENST00000540108.1:c.*1185A>G ENSP00000445445.1:n.*1185A>G
ENST00000541395.5:c.1838A>G ENSP00000443112.1:p.His613Arg
ENST00000543427.5:c.1208A>G ENSP00000439721.2:p.His403Arg
ENST00000544413.2:c.1766A>G ENSP00000438804.1:p.His589Arg
ENST00000560968.5:c.1562A>G
ENST00000615446.4:c.533A>G ENSP00000483994.1:p.His178Arg
ENST00000617366.4:c.*154A>G ENSP00000481967.1:n.*154A>G
NM_000545.5:c.1745A>G , LRG_522t1:c.1745A>G NP_000536.5:p.His582Arg
NM_000545.6:c.1745A>G NP_000536.5:p.His582Arg
NM_001306179.1:c.1766A>G NP_001293108.1:p.His589Arg
XM_005253931.2:c.1838A>G XP_005253988.1:p.His613Arg
XM_024449168.1:c.1838A>G XP_024304936.1:p.His613Arg
NM_000545.8:c.1745A>G MANE Select NP_000536.6:p.His582Arg
NM_001306179.2:c.1766A>G NP_001293108.2:p.His589Arg
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