Canonical Allele Identifier: CA409107344

Gene: HNF4A

Linked Data

• MyVariant Identifiers: chr20:g.43048374T>G (hg19) ; chr20:g.44419734T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44419734T>G , CM000682.2:g.44419734T>G	GRCh38
NC_000020.10:g.43048374T>G , CM000682.1:g.43048374T>G	GRCh37
NC_000020.9:g.42481788T>G	NCBI36
NG_009818.1:g.68934T>G , LRG_483:g.68934T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316673.9:c.684T>G MANE Select	ENSP00000315180.4:p.Ile228Met
ENST00000316099.10:c.750T>G	ENSP00000312987.3:p.Ile250Met
ENST00000619550.5:c.724T>G
ENST00000683148.1:n.726T>G
ENST00000683657.1:n.1874T>G
ENST00000316099.9:c.750T>G	ENSP00000312987.3:p.Ile250Met
ENST00000316099.8:c.750T>G	ENSP00000312987.3:p.Ile250Met
ENST00000316673.8:c.684T>G	ENSP00000315180.4:p.Ile228Met
ENST00000372920.1:c.*517T>G	ENSP00000362011.1:n.*517T>G
ENST00000415691.2:c.750T>G	ENSP00000412111.1:p.Ile250Met
ENST00000443598.6:c.750T>G	ENSP00000410911.2:p.Ile250Met
ENST00000457232.5:c.684T>G	ENSP00000396216.1:p.Ile228Met
ENST00000609795.5:c.684T>G	ENSP00000476609.1:p.Ile228Met
ENST00000619550.4:c.675T>G	ENSP00000481331.1:p.Ile225Met
NM_000457.4:c.750T>G , LRG_483t2:c.750T>G	NP_000448.3:p.Ile250Met
NM_001030003.2:c.684T>G	NP_001025174.1:p.Ile228Met
NM_001030004.2:c.684T>G	NP_001025175.1:p.Ile228Met
NM_001258355.1:c.729T>G	NP_001245284.1:p.Ile243Met
NM_001287182.1:c.675T>G	NP_001274111.1:p.Ile225Met
NM_001287183.1:c.675T>G , LRG_483t3:c.675T>G	NP_001274112.1:p.Ile225Met
NM_001287184.1:c.675T>G	NP_001274113.1:p.Ile225Met
NM_175914.4:c.684T>G , LRG_483t1:c.684T>G	NP_787110.2:p.Ile228Met
NM_178849.2:c.750T>G	NP_849180.1:p.Ile250Met
NM_178850.2:c.750T>G	NP_849181.1:p.Ile250Met
XM_005260407.2:c.867T>G	XP_005260464.1:p.Ile289Met
XM_011528797.1:c.798T>G	XP_011527099.1:p.Ile266Met
XM_011528798.1:c.798T>G	XP_011527100.1:p.Ile266Met
XM_005260407.4:c.867T>G	XP_005260464.1:p.Ile289Met
NM_001030003.3:c.684T>G	NP_001025174.1:p.Ile228Met
NM_001030004.3:c.684T>G	NP_001025175.1:p.Ile228Met
NM_001258355.2:c.729T>G	NP_001245284.1:p.Ile243Met
NM_001287182.2:c.675T>G	NP_001274111.1:p.Ile225Met
NM_001287184.2:c.675T>G	NP_001274113.1:p.Ile225Met
NM_178849.3:c.750T>G	NP_849180.1:p.Ile250Met
NM_178850.3:c.750T>G	NP_849181.1:p.Ile250Met
NM_000457.5:c.750T>G	NP_000448.3:p.Ile250Met
NM_000457.6:c.750T>G	NP_000448.3:p.Ile250Met
NM_001287183.2:c.675T>G	NP_001274112.1:p.Ile225Met
NM_175914.5:c.684T>G MANE Select	NP_787110.2:p.Ile228Met