Canonical Allele Identifier: CA9870022
Gene: HNF4A HGNC NCBI
ClinGen Evidence Repository:
Classification Uncertain Significance
Condition monogenic diabetes
VCEP Monogenic Diabetes VCEP
MyVariant.info:
GRCh38 chr20:g.44355811A>C
GRCh37 chr20:g.42984451A>C
Revel Score:
ENST00000316673 (MANE Select) 0.256
ENST00000457232 0.256
gnomAD v2:
20:42984451 A / C
gnomAD v3:
20:44355811 A / C
gnomAD v4:
chr20-44355811-A-C
Joint Max Group AF 0.00005809 (MID)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00006103 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44355811A>C , CM000682.2:g.44355811A>C GRCh38
NC_000020.10:g.42984451A>C , CM000682.1:g.42984451A>C GRCh37
NC_000020.9:g.42417865A>C NCBI36
NG_009818.1:g.5011A>C , LRG_483:g.5011A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.7A>C MANE Select ENSP00000315180.4:p.Ser3Arg
ENST00000316673.8:c.7A>C ENSP00000315180.4:p.Ser3Arg
ENST00000457232.5:c.7A>C ENSP00000396216.1:p.Ser3Arg
ENST00000609262.5:c.-225A>C ENSP00000476310.1:n.-225A>C
ENST00000609795.5:c.7A>C ENSP00000476609.1:p.Ser3Arg
ENST00000619550.4:c.-225A>C ENSP00000481331.1:n.-225A>C
NM_001030003.2:c.7A>C NP_001025174.1:p.Ser3Arg
NM_001030004.2:c.7A>C NP_001025175.1:p.Ser3Arg
NM_001287182.1:c.-225A>C NP_001274111.1:n.-225A>C
NM_001287183.1:c.-225A>C , LRG_483t3:c.-225A>C NP_001274112.1:n.-225A>C
NM_001287184.1:c.-225A>C NP_001274113.1:n.-225A>C
NM_175914.4:c.7A>C , LRG_483t1:c.7A>C NP_787110.2:p.Ser3Arg
NM_001030003.3:c.7A>C NP_001025174.1:p.Ser3Arg
NM_001030004.3:c.7A>C NP_001025175.1:p.Ser3Arg
NM_001287182.2:c.-225A>C NP_001274111.1:n.-225A>C
NM_001287184.2:c.-225A>C NP_001274113.1:n.-225A>C
NM_001287183.2:c.-225A>C NP_001274112.1:n.-225A>C
NM_175914.5:c.7A>C MANE Select NP_787110.2:p.Ser3Arg
Search 100 bp 5'
Search 100 bp 3'