Canonical Allele Identifier: CA9870181

Gene: HNF4A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44406204G>A , CM000682.2:g.44406204G>A	GRCh38
NC_000020.10:g.43034844G>A , CM000682.1:g.43034844G>A	GRCh37
NC_000020.9:g.42468258G>A	NCBI36
NG_009818.1:g.55404G>A , LRG_483:g.55404G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_175914.5:c.196G>A MANE Select	NP_787110.2:p.Val66Met
ENST00000316673.9:c.196G>A MANE Select	ENSP00000315180.4:p.Val66Met
NM_000457.4:c.262G>A , LRG_483t2:c.262G>A	NP_000448.3:p.Val88Met
NM_000457.5:c.262G>A	NP_000448.3:p.Val88Met
NM_000457.6:c.262G>A	NP_000448.3:p.Val88Met
NM_001030003.2:c.196G>A	NP_001025174.1:p.Val66Met
NM_001030003.3:c.196G>A	NP_001025174.1:p.Val66Met
NM_001030004.2:c.196G>A	NP_001025175.1:p.Val66Met
NM_001030004.3:c.196G>A	NP_001025175.1:p.Val66Met
NM_001258355.1:c.241G>A	NP_001245284.1:p.Val81Met
NM_001258355.2:c.241G>A	NP_001245284.1:p.Val81Met
NM_001287182.1:c.187G>A	NP_001274111.1:p.Val63Met
NM_001287182.2:c.187G>A	NP_001274111.1:p.Val63Met
NM_001287183.1:c.187G>A , LRG_483t3:c.187G>A	NP_001274112.1:p.Val63Met
NM_001287183.2:c.187G>A	NP_001274112.1:p.Val63Met
NM_001287184.1:c.187G>A	NP_001274113.1:p.Val63Met
NM_001287184.2:c.187G>A	NP_001274113.1:p.Val63Met
NM_175914.4:c.196G>A , LRG_483t1:c.196G>A	NP_787110.2:p.Val66Met
NM_178849.2:c.262G>A	NP_849180.1:p.Val88Met
NM_178849.3:c.262G>A	NP_849180.1:p.Val88Met
NM_178850.2:c.262G>A	NP_849181.1:p.Val88Met
NM_178850.3:c.262G>A	NP_849181.1:p.Val88Met
ENST00000316099.10:c.262G>A	ENSP00000312987.3:p.Val88Met
ENST00000316099.8:c.262G>A	ENSP00000312987.3:p.Val88Met
ENST00000316099.9:c.262G>A	ENSP00000312987.3:p.Val88Met
ENST00000316673.8:c.196G>A	ENSP00000315180.4:p.Val66Met
ENST00000372920.1:c.*29G>A	ENSP00000362011.1:n.*29G>A
ENST00000415691.2:c.262G>A	ENSP00000412111.1:p.Val88Met
ENST00000443598.6:c.262G>A	ENSP00000410911.2:p.Val88Met
ENST00000457232.5:c.196G>A	ENSP00000396216.1:p.Val66Met
ENST00000609262.5:c.187G>A	ENSP00000476310.1:p.Val63Met
ENST00000609795.5:c.196G>A	ENSP00000476609.1:p.Val66Met
ENST00000619550.4:c.187G>A	ENSP00000481331.1:p.Val63Met
ENST00000619550.5:c.236G>A
ENST00000681977.1:c.238G>A	ENSP00000507189.1:p.Val80Met
ENST00000682169.1:c.215G>A
ENST00000683148.1:n.238G>A
ENST00000683657.1:n.238G>A
ENST00000684046.1:c.238G>A	ENSP00000507555.1:p.Val80Met
ENST00000684136.1:c.238G>A	ENSP00000507389.1:p.Val80Met
ENST00000684476.1:c.219G>A	ENSP00000507529.1:p.Ala73=
XM_005260407.2:c.379G>A	XP_005260464.1:p.Val127Met
XM_005260407.4:c.379G>A	XP_005260464.1:p.Val127Met
XM_011528797.1:c.310G>A	XP_011527099.1:p.Val104Met
XM_011528798.1:c.310G>A	XP_011527100.1:p.Val104Met