Canonical Allele Identifier: CA2499225757
Gene: HNF4A HGNC NCBI

Linked Data

ClinVar Variation Id: 1299752
ClinVar RCV Id: RCV001730177 RCV003883183
dbSNP Id: rs2146127577
ERepo: CA2499225757/MONDO:0015967/085
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44355805del , CM000682.2:g.44355805del GRCh38
NC_000020.10:g.42984445del , CM000682.1:g.42984445del GRCh37
NC_000020.9:g.42417859del NCBI36
NG_009818.1:g.5005del , LRG_483:g.5005del

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.1del MANE Select ENSP00000315180.4:p.Met1TrpfsTer4
ENST00000316673.8:c.1del ENSP00000315180.4:p.Met1TrpfsTer4
ENST00000457232.5:c.1del ENSP00000396216.1:p.Met1TrpfsTer4
ENST00000609262.5:c.-231del ENSP00000476310.1:n.-231del
ENST00000609795.5:c.1del ENSP00000476609.1:p.Met1TrpfsTer4
ENST00000619550.4:c.-231del ENSP00000481331.1:n.-231del
NM_001030003.2:c.1del NP_001025174.1:p.Met1TrpfsTer4
NM_001030004.2:c.1del NP_001025175.1:p.Met1TrpfsTer4
NM_001287182.1:c.-231del NP_001274111.1:n.-231del
NM_001287183.1:c.-231del , LRG_483t3:c.-231del NP_001274112.1:n.-231del
NM_001287184.1:c.-231del NP_001274113.1:n.-231del
NM_175914.4:c.1del , LRG_483t1:c.1del NP_787110.2:p.Met1TrpfsTer4
NM_001030003.3:c.1del NP_001025174.1:p.Met1TrpfsTer4
NM_001030004.3:c.1del NP_001025175.1:p.Met1TrpfsTer4
NM_001287182.2:c.-231del NP_001274111.1:n.-231del
NM_001287184.2:c.-231del NP_001274113.1:n.-231del
NM_001287183.2:c.-231del NP_001274112.1:n.-231del
NM_175914.5:c.1del MANE Select NP_787110.2:p.Met1TrpfsTer4
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