Canonical Allele Identifier: CA2365755700
Gene: HNF4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44401795G>T , CM000682.2:g.44401795G>T GRCh38
NC_000020.10:g.43030435G>T , CM000682.1:g.43030435G>T GRCh37
NC_000020.9:g.42463849G>T NCBI36
NG_009818.1:g.50995G>T , LRG_483:g.50995G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.50-4263G>T MANE Select ENSP00000315180.4:n.50-4263G>T
ENST00000316099.10:c.115+308G>T ENSP00000312987.3:n.115+308G>T
ENST00000619550.5:c.89+308G>T
ENST00000681977.1:c.91+308G>T ENSP00000507189.1:n.91+308G>T
ENST00000682169.1:c.68+327G>T
ENST00000682427.1:c.148G>T ENSP00000506914.1:p.Val50Leu
ENST00000683148.1:n.91+308G>T
ENST00000683657.1:n.91+308G>T
ENST00000684046.1:c.91+308G>T ENSP00000507555.1:n.91+308G>T
ENST00000684136.1:c.91+308G>T ENSP00000507389.1:n.91+308G>T
ENST00000684476.1:c.72+327G>T ENSP00000507529.1:n.72+327G>T
ENST00000316099.9:c.115+308G>T ENSP00000312987.3:n.115+308G>T
ENST00000316099.8:c.115+308G>T ENSP00000312987.3:n.115+308G>T
ENST00000316673.8:c.50-4263G>T ENSP00000315180.4:n.50-4263G>T
ENST00000372920.1:c.115+308G>T ENSP00000362011.1:n.115+308G>T
ENST00000415691.2:c.115+308G>T ENSP00000412111.1:n.115+308G>T
ENST00000443598.6:c.115+308G>T ENSP00000410911.2:n.115+308G>T
ENST00000457232.5:c.50-4263G>T ENSP00000396216.1:n.50-4263G>T
ENST00000609262.5:c.41-4263G>T ENSP00000476310.1:n.41-4263G>T
ENST00000609795.5:c.50-4263G>T ENSP00000476609.1:n.50-4263G>T
ENST00000619550.4:c.41-4263G>T ENSP00000481331.1:n.41-4263G>T
NM_000457.4:c.115+308G>T , LRG_483t2:c.115+308G>T NP_000448.3:n.115+308G>T
NM_001030003.2:c.50-4263G>T NP_001025174.1:n.50-4263G>T
NM_001030004.2:c.50-4263G>T NP_001025175.1:n.50-4263G>T
NM_001258355.1:c.3+308G>T NP_001245284.1:n.3+308G>T
NM_001287182.1:c.41-4263G>T NP_001274111.1:n.41-4263G>T
NM_001287183.1:c.41-4263G>T , LRG_483t3:c.41-4263G>T NP_001274112.1:n.41-4263G>T
NM_001287184.1:c.41-4263G>T NP_001274113.1:n.41-4263G>T
NM_175914.4:c.50-4263G>T , LRG_483t1:c.50-4263G>T NP_787110.2:n.50-4263G>T
NM_178849.2:c.115+308G>T NP_849180.1:n.115+308G>T
NM_178850.2:c.115+308G>T NP_849181.1:n.115+308G>T
XM_005260407.2:c.141+282G>T XP_005260464.1:n.141+282G>T
XM_005260407.4:c.141+282G>T XP_005260464.1:n.141+282G>T
NM_001030003.3:c.50-4263G>T NP_001025174.1:n.50-4263G>T
NM_001030004.3:c.50-4263G>T NP_001025175.1:n.50-4263G>T
NM_001258355.2:c.3+308G>T NP_001245284.1:n.3+308G>T
NM_001287182.2:c.41-4263G>T NP_001274111.1:n.41-4263G>T
NM_001287184.2:c.41-4263G>T NP_001274113.1:n.41-4263G>T
NM_178849.3:c.115+308G>T NP_849180.1:n.115+308G>T
NM_178850.3:c.115+308G>T NP_849181.1:n.115+308G>T
NM_000457.5:c.115+308G>T NP_000448.3:n.115+308G>T
NM_000457.6:c.115+308G>T NP_000448.3:n.115+308G>T
NM_001287183.2:c.41-4263G>T NP_001274112.1:n.41-4263G>T
NM_175914.5:c.50-4263G>T MANE Select NP_787110.2:n.50-4263G>T