Canonical Allele Identifier: CA2580617373
Gene: HNF4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44413711del , CM000682.2:g.44413711del GRCh38
NC_000020.10:g.43042351del , CM000682.1:g.43042351del GRCh37
NC_000020.9:g.42475765del NCBI36
NG_009818.1:g.62911del , LRG_483:g.62911del

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.337del MANE Select ENSP00000315180.4:p.Asp113ThrfsTer?
ENST00000316099.10:c.403del ENSP00000312987.3:p.Asp135ThrfsTer?
ENST00000619550.5:c.377del
ENST00000683148.1:n.379del
ENST00000683657.1:n.1527del
ENST00000316099.9:c.403del ENSP00000312987.3:p.Asp135ThrfsTer?
ENST00000316099.8:c.403del ENSP00000312987.3:p.Asp135ThrfsTer?
ENST00000316673.8:c.337del ENSP00000315180.4:p.Asp113ThrfsTer?
ENST00000372920.1:c.*170del ENSP00000362011.1:n.*170del
ENST00000415691.2:c.403del ENSP00000412111.1:p.Asp135ThrfsTer?
ENST00000443598.6:c.403del ENSP00000410911.2:p.Asp135ThrfsTer?
ENST00000457232.5:c.337del ENSP00000396216.1:p.Asp113ThrfsTer?
ENST00000609795.5:c.337del ENSP00000476609.1:p.Asp113ThrfsTer?
ENST00000619550.4:c.328del ENSP00000481331.1:p.Asp110ThrfsTer?
NM_000457.4:c.403del , LRG_483t2:c.403del NP_000448.3:p.Asp135ThrfsTer?
NM_001030003.2:c.337del NP_001025174.1:p.Asp113ThrfsTer?
NM_001030004.2:c.337del NP_001025175.1:p.Asp113ThrfsTer?
NM_001258355.1:c.382del NP_001245284.1:p.Asp128ThrfsTer?
NM_001287182.1:c.328del NP_001274111.1:p.Asp110ThrfsTer?
NM_001287183.1:c.328del , LRG_483t3:c.328del NP_001274112.1:p.Asp110ThrfsTer?
NM_001287184.1:c.328del NP_001274113.1:p.Asp110ThrfsTer?
NM_175914.4:c.337del , LRG_483t1:c.337del NP_787110.2:p.Asp113ThrfsTer?
NM_178849.2:c.403del NP_849180.1:p.Asp135ThrfsTer?
NM_178850.2:c.403del NP_849181.1:p.Asp135ThrfsTer?
XM_005260407.2:c.520del XP_005260464.1:p.Asp174ThrfsTer?
XM_011528797.1:c.451del XP_011527099.1:p.Asp151ThrfsTer?
XM_011528798.1:c.451del XP_011527100.1:p.Asp151ThrfsTer?
XM_005260407.4:c.520del XP_005260464.1:p.Asp174ThrfsTer?
NM_001030003.3:c.337del NP_001025174.1:p.Asp113ThrfsTer?
NM_001030004.3:c.337del NP_001025175.1:p.Asp113ThrfsTer?
NM_001258355.2:c.382del NP_001245284.1:p.Asp128ThrfsTer?
NM_001287182.2:c.328del NP_001274111.1:p.Asp110ThrfsTer?
NM_001287184.2:c.328del NP_001274113.1:p.Asp110ThrfsTer?
NM_178849.3:c.403del NP_849180.1:p.Asp135ThrfsTer?
NM_178850.3:c.403del NP_849181.1:p.Asp135ThrfsTer?
NM_000457.5:c.403del NP_000448.3:p.Asp135ThrfsTer?
NM_000457.6:c.403del NP_000448.3:p.Asp135ThrfsTer?
NM_001287183.2:c.328del NP_001274112.1:p.Asp110ThrfsTer?
NM_175914.5:c.337del MANE Select NP_787110.2:p.Asp113ThrfsTer?