Canonical Allele Identifier: CA2365764284

Gene: HNF4A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44419733T= , CM000682.2:g.44419733T=	GRCh38
NC_000020.10:g.43048373T= , CM000682.1:g.43048373T=	GRCh37
NC_000020.9:g.42481787T=	NCBI36
NG_009818.1:g.68933T= , LRG_483:g.68933T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316673.9:c.683T= MANE Select	ENSP00000315180.4:p.Ile228=
ENST00000316099.10:c.749T=	ENSP00000312987.3:p.Ile250=
ENST00000619550.5:c.723T=
ENST00000683148.1:n.725T=
ENST00000683657.1:n.1873T=
ENST00000316099.9:c.749T=	ENSP00000312987.3:p.Ile250=
ENST00000316099.8:c.749T=	ENSP00000312987.3:p.Ile250=
ENST00000316673.8:c.683T=	ENSP00000315180.4:p.Ile228=
ENST00000372920.1:c.*516T=	ENSP00000362011.1:n.*516T=
ENST00000415691.2:c.749T=	ENSP00000412111.1:p.Ile250=
ENST00000443598.6:c.749T=	ENSP00000410911.2:p.Ile250=
ENST00000457232.5:c.683T=	ENSP00000396216.1:p.Ile228=
ENST00000609795.5:c.683T=	ENSP00000476609.1:p.Ile228=
ENST00000619550.4:c.674T=	ENSP00000481331.1:p.Ile225=
NM_000457.4:c.749T= , LRG_483t2:c.749T=	NP_000448.3:p.Ile250=
NM_001030003.2:c.683T=	NP_001025174.1:p.Ile228=
NM_001030004.2:c.683T=	NP_001025175.1:p.Ile228=
NM_001258355.1:c.728T=	NP_001245284.1:p.Ile243=
NM_001287182.1:c.674T=	NP_001274111.1:p.Ile225=
NM_001287183.1:c.674T= , LRG_483t3:c.674T=	NP_001274112.1:p.Ile225=
NM_001287184.1:c.674T=	NP_001274113.1:p.Ile225=
NM_175914.4:c.683T= , LRG_483t1:c.683T=	NP_787110.2:p.Ile228=
NM_178849.2:c.749T=	NP_849180.1:p.Ile250=
NM_178850.2:c.749T=	NP_849181.1:p.Ile250=
XM_005260407.2:c.866T=	XP_005260464.1:p.Ile289=
XM_011528797.1:c.797T=	XP_011527099.1:p.Ile266=
XM_011528798.1:c.797T=	XP_011527100.1:p.Ile266=
XM_005260407.4:c.866T=	XP_005260464.1:p.Ile289=
NM_001030003.3:c.683T=	NP_001025174.1:p.Ile228=
NM_001030004.3:c.683T=	NP_001025175.1:p.Ile228=
NM_001258355.2:c.728T=	NP_001245284.1:p.Ile243=
NM_001287182.2:c.674T=	NP_001274111.1:p.Ile225=
NM_001287184.2:c.674T=	NP_001274113.1:p.Ile225=
NM_178849.3:c.749T=	NP_849180.1:p.Ile250=
NM_178850.3:c.749T=	NP_849181.1:p.Ile250=
NM_000457.5:c.749T=	NP_000448.3:p.Ile250=
NM_000457.6:c.749T=	NP_000448.3:p.Ile250=
NM_001287183.2:c.674T=	NP_001274112.1:p.Ile225=
NM_175914.5:c.683T= MANE Select	NP_787110.2:p.Ile228=