Canonical Allele Identifier: CA409107360
Community Standard Title: NM_175914.5(HNF4A):c.692G>A (p.Arg231Gln)
Gene: HNF4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44419742G>A , CM000682.2:g.44419742G>A GRCh38
NC_000020.10:g.43048382G>A , CM000682.1:g.43048382G>A GRCh37
NC_000020.9:g.42481796G>A NCBI36
NG_009818.1:g.68942G>A , LRG_483:g.68942G>A

Transcript Alleles

HGVS Amino-acid Change
NM_175914.5:c.692G>A MANE Select NP_787110.2:p.Arg231Gln
ENST00000316673.9:c.692G>A MANE Select ENSP00000315180.4:p.Arg231Gln
NM_000457.4:c.758G>A , LRG_483t2:c.758G>A NP_000448.3:p.Arg253Gln
NM_000457.5:c.758G>A NP_000448.3:p.Arg253Gln
NM_000457.6:c.758G>A NP_000448.3:p.Arg253Gln
NM_001030003.2:c.692G>A NP_001025174.1:p.Arg231Gln
NM_001030003.3:c.692G>A NP_001025174.1:p.Arg231Gln
NM_001030004.2:c.692G>A NP_001025175.1:p.Arg231Gln
NM_001030004.3:c.692G>A NP_001025175.1:p.Arg231Gln
NM_001258355.1:c.737G>A NP_001245284.1:p.Arg246Gln
NM_001258355.2:c.737G>A NP_001245284.1:p.Arg246Gln
NM_001287182.1:c.683G>A NP_001274111.1:p.Arg228Gln
NM_001287182.2:c.683G>A NP_001274111.1:p.Arg228Gln
NM_001287183.1:c.683G>A , LRG_483t3:c.683G>A NP_001274112.1:p.Arg228Gln
NM_001287183.2:c.683G>A NP_001274112.1:p.Arg228Gln
NM_001287184.1:c.683G>A NP_001274113.1:p.Arg228Gln
NM_001287184.2:c.683G>A NP_001274113.1:p.Arg228Gln
NM_175914.4:c.692G>A , LRG_483t1:c.692G>A NP_787110.2:p.Arg231Gln
NM_178849.2:c.758G>A NP_849180.1:p.Arg253Gln
NM_178849.3:c.758G>A NP_849180.1:p.Arg253Gln
NM_178850.2:c.758G>A NP_849181.1:p.Arg253Gln
NM_178850.3:c.758G>A NP_849181.1:p.Arg253Gln
ENST00000316099.10:c.758G>A ENSP00000312987.3:p.Arg253Gln
ENST00000316099.8:c.758G>A ENSP00000312987.3:p.Arg253Gln
ENST00000316099.9:c.758G>A ENSP00000312987.3:p.Arg253Gln
ENST00000316673.8:c.692G>A ENSP00000315180.4:p.Arg231Gln
ENST00000372920.1:c.*525G>A ENSP00000362011.1:n.*525G>A
ENST00000415691.2:c.758G>A ENSP00000412111.1:p.Arg253Gln
ENST00000443598.6:c.758G>A ENSP00000410911.2:p.Arg253Gln
ENST00000457232.5:c.692G>A ENSP00000396216.1:p.Arg231Gln
ENST00000609795.5:c.692G>A ENSP00000476609.1:p.Arg231Gln
ENST00000619550.4:c.683G>A ENSP00000481331.1:p.Arg228Gln
ENST00000619550.5:c.732G>A
ENST00000683148.1:n.734G>A
ENST00000683657.1:n.1882G>A
XM_005260407.2:c.875G>A XP_005260464.1:p.Arg292Gln
XM_005260407.4:c.875G>A XP_005260464.1:p.Arg292Gln
XM_011528797.1:c.806G>A XP_011527099.1:p.Arg269Gln
XM_011528798.1:c.806G>A XP_011527100.1:p.Arg269Gln