Canonical Allele Identifier: CA9870202

Gene: HNF4A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44407389G>A , CM000682.2:g.44407389G>A	GRCh38
NC_000020.10:g.43036029G>A , CM000682.1:g.43036029G>A	GRCh37
NC_000020.9:g.42469443G>A	NCBI36
NG_009818.1:g.56589G>A , LRG_483:g.56589G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_175914.5:c.233G>A MANE Select	NP_787110.2:p.Arg78Gln
ENST00000316673.9:c.233G>A MANE Select	ENSP00000315180.4:p.Arg78Gln
NM_000457.4:c.299G>A , LRG_483t2:c.299G>A	NP_000448.3:p.Arg100Gln
NM_000457.5:c.299G>A	NP_000448.3:p.Arg100Gln
NM_000457.6:c.299G>A	NP_000448.3:p.Arg100Gln
NM_001030003.2:c.233G>A	NP_001025174.1:p.Arg78Gln
NM_001030003.3:c.233G>A	NP_001025174.1:p.Arg78Gln
NM_001030004.2:c.233G>A	NP_001025175.1:p.Arg78Gln
NM_001030004.3:c.233G>A	NP_001025175.1:p.Arg78Gln
NM_001258355.1:c.278G>A	NP_001245284.1:p.Arg93Gln
NM_001258355.2:c.278G>A	NP_001245284.1:p.Arg93Gln
NM_001287182.1:c.224G>A	NP_001274111.1:p.Arg75Gln
NM_001287182.2:c.224G>A	NP_001274111.1:p.Arg75Gln
NM_001287183.1:c.224G>A , LRG_483t3:c.224G>A	NP_001274112.1:p.Arg75Gln
NM_001287183.2:c.224G>A	NP_001274112.1:p.Arg75Gln
NM_001287184.1:c.224G>A	NP_001274113.1:p.Arg75Gln
NM_001287184.2:c.224G>A	NP_001274113.1:p.Arg75Gln
NM_175914.4:c.233G>A , LRG_483t1:c.233G>A	NP_787110.2:p.Arg78Gln
NM_178849.2:c.299G>A	NP_849180.1:p.Arg100Gln
NM_178849.3:c.299G>A	NP_849180.1:p.Arg100Gln
NM_178850.2:c.299G>A	NP_849181.1:p.Arg100Gln
NM_178850.3:c.299G>A	NP_849181.1:p.Arg100Gln
ENST00000316099.10:c.299G>A	ENSP00000312987.3:p.Arg100Gln
ENST00000316099.8:c.299G>A	ENSP00000312987.3:p.Arg100Gln
ENST00000316099.9:c.299G>A	ENSP00000312987.3:p.Arg100Gln
ENST00000316673.8:c.233G>A	ENSP00000315180.4:p.Arg78Gln
ENST00000372920.1:c.*66G>A	ENSP00000362011.1:n.*66G>A
ENST00000415691.2:c.299G>A	ENSP00000412111.1:p.Arg100Gln
ENST00000443598.6:c.299G>A	ENSP00000410911.2:p.Arg100Gln
ENST00000457232.5:c.233G>A	ENSP00000396216.1:p.Arg78Gln
ENST00000609262.5:c.224G>A	ENSP00000476310.1:p.Arg75Gln
ENST00000609795.5:c.233G>A	ENSP00000476609.1:p.Arg78Gln
ENST00000619550.4:c.224G>A	ENSP00000481331.1:p.Arg75Gln
ENST00000619550.5:c.273G>A
ENST00000681977.1:c.275G>A	ENSP00000507189.1:p.Arg92Gln
ENST00000682169.1:c.252G>A
ENST00000683148.1:n.275G>A
ENST00000683657.1:n.1423G>A
ENST00000684046.1:c.275G>A	ENSP00000507555.1:p.Arg92Gln
ENST00000684136.1:c.285G>A	ENSP00000507389.1:n.285G>A
ENST00000684476.1:c.256G>A	ENSP00000507529.1:p.Gly86Ser
XM_005260407.2:c.416G>A	XP_005260464.1:p.Arg139Gln
XM_005260407.4:c.416G>A	XP_005260464.1:p.Arg139Gln
XM_011528797.1:c.347G>A	XP_011527099.1:p.Arg116Gln
XM_011528798.1:c.347G>A	XP_011527100.1:p.Arg116Gln