Canonical Allele Identifier: CA409104032
Community Standard Title: NM_175914.5(HNF4A):c.224G>A (p.Arg75Lys)
Gene: HNF4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44406232G>A , CM000682.2:g.44406232G>A GRCh38
NC_000020.10:g.43034872G>A , CM000682.1:g.43034872G>A GRCh37
NC_000020.9:g.42468286G>A NCBI36
NG_009818.1:g.55432G>A , LRG_483:g.55432G>A

Transcript Alleles

HGVS Amino-acid Change
NM_175914.5:c.224G>A MANE Select NP_787110.2:p.Arg75Lys
ENST00000316673.9:c.224G>A MANE Select ENSP00000315180.4:p.Arg75Lys
NM_000457.4:c.290G>A , LRG_483t2:c.290G>A NP_000448.3:p.Arg97Lys
NM_000457.5:c.290G>A NP_000448.3:p.Arg97Lys
NM_000457.6:c.290G>A NP_000448.3:p.Arg97Lys
NM_001030003.2:c.224G>A NP_001025174.1:p.Arg75Lys
NM_001030003.3:c.224G>A NP_001025174.1:p.Arg75Lys
NM_001030004.2:c.224G>A NP_001025175.1:p.Arg75Lys
NM_001030004.3:c.224G>A NP_001025175.1:p.Arg75Lys
NM_001258355.1:c.269G>A NP_001245284.1:p.Arg90Lys
NM_001258355.2:c.269G>A NP_001245284.1:p.Arg90Lys
NM_001287182.1:c.215G>A NP_001274111.1:p.Arg72Lys
NM_001287182.2:c.215G>A NP_001274111.1:p.Arg72Lys
NM_001287183.1:c.215G>A , LRG_483t3:c.215G>A NP_001274112.1:p.Arg72Lys
NM_001287183.2:c.215G>A NP_001274112.1:p.Arg72Lys
NM_001287184.1:c.215G>A NP_001274113.1:p.Arg72Lys
NM_001287184.2:c.215G>A NP_001274113.1:p.Arg72Lys
NM_175914.4:c.224G>A , LRG_483t1:c.224G>A NP_787110.2:p.Arg75Lys
NM_178849.2:c.290G>A NP_849180.1:p.Arg97Lys
NM_178849.3:c.290G>A NP_849180.1:p.Arg97Lys
NM_178850.2:c.290G>A NP_849181.1:p.Arg97Lys
NM_178850.3:c.290G>A NP_849181.1:p.Arg97Lys
ENST00000316099.10:c.290G>A ENSP00000312987.3:p.Arg97Lys
ENST00000316099.8:c.290G>A ENSP00000312987.3:p.Arg97Lys
ENST00000316099.9:c.290G>A ENSP00000312987.3:p.Arg97Lys
ENST00000316673.8:c.224G>A ENSP00000315180.4:p.Arg75Lys
ENST00000372920.1:c.*57G>A ENSP00000362011.1:n.*57G>A
ENST00000415691.2:c.290G>A ENSP00000412111.1:p.Arg97Lys
ENST00000443598.6:c.290G>A ENSP00000410911.2:p.Arg97Lys
ENST00000457232.5:c.224G>A ENSP00000396216.1:p.Arg75Lys
ENST00000609262.5:c.215G>A ENSP00000476310.1:p.Arg72Lys
ENST00000609795.5:c.224G>A ENSP00000476609.1:p.Arg75Lys
ENST00000619550.4:c.215G>A ENSP00000481331.1:p.Arg72Lys
ENST00000619550.5:c.264G>A
ENST00000681977.1:c.266G>A ENSP00000507189.1:p.Arg89Lys
ENST00000682169.1:c.243G>A
ENST00000683148.1:n.266G>A
ENST00000683657.1:n.266G>A
ENST00000684046.1:c.266G>A ENSP00000507555.1:p.Arg89Lys
ENST00000684136.1:c.266G>A ENSP00000507389.1:p.Ser89Asn
ENST00000684476.1:c.247G>A ENSP00000507529.1:p.Asp83Asn
XM_005260407.2:c.407G>A XP_005260464.1:p.Arg136Lys
XM_005260407.4:c.407G>A XP_005260464.1:p.Arg136Lys
XM_011528797.1:c.338G>A XP_011527099.1:p.Arg113Lys
XM_011528798.1:c.338G>A XP_011527100.1:p.Arg113Lys