Canonical Allele Identifier: CA409107321

Gene: HNF4A

Linked Data

• gnomAD v3: 20-44419725-T-A
• gnomAD v4: 20-44419725-T-A
• MyVariant Identifiers: chr20:g.43048365T>A (hg19) ; chr20:g.44419725T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44419725T>A , CM000682.2:g.44419725T>A	GRCh38
NC_000020.10:g.43048365T>A , CM000682.1:g.43048365T>A	GRCh37
NC_000020.9:g.42481779T>A	NCBI36
NG_009818.1:g.68925T>A , LRG_483:g.68925T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000316673.9:c.675T>A MANE Select	ENSP00000315180.4:p.Asn225Lys
ENST00000316099.10:c.741T>A	ENSP00000312987.3:p.Asn247Lys
ENST00000619550.5:c.715T>A
ENST00000683148.1:n.717T>A
ENST00000683657.1:n.1865T>A
ENST00000316099.9:c.741T>A	ENSP00000312987.3:p.Asn247Lys
ENST00000316099.8:c.741T>A	ENSP00000312987.3:p.Asn247Lys
ENST00000316673.8:c.675T>A	ENSP00000315180.4:p.Asn225Lys
ENST00000372920.1:c.*508T>A	ENSP00000362011.1:n.*508T>A
ENST00000415691.2:c.741T>A	ENSP00000412111.1:p.Asn247Lys
ENST00000443598.6:c.741T>A	ENSP00000410911.2:p.Asn247Lys
ENST00000457232.5:c.675T>A	ENSP00000396216.1:p.Asn225Lys
ENST00000609795.5:c.675T>A	ENSP00000476609.1:p.Asn225Lys
ENST00000619550.4:c.666T>A	ENSP00000481331.1:p.Asn222Lys
NM_000457.4:c.741T>A , LRG_483t2:c.741T>A	NP_000448.3:p.Asn247Lys
NM_001030003.2:c.675T>A	NP_001025174.1:p.Asn225Lys
NM_001030004.2:c.675T>A	NP_001025175.1:p.Asn225Lys
NM_001258355.1:c.720T>A	NP_001245284.1:p.Asn240Lys
NM_001287182.1:c.666T>A	NP_001274111.1:p.Asn222Lys
NM_001287183.1:c.666T>A , LRG_483t3:c.666T>A	NP_001274112.1:p.Asn222Lys
NM_001287184.1:c.666T>A	NP_001274113.1:p.Asn222Lys
NM_175914.4:c.675T>A , LRG_483t1:c.675T>A	NP_787110.2:p.Asn225Lys
NM_178849.2:c.741T>A	NP_849180.1:p.Asn247Lys
NM_178850.2:c.741T>A	NP_849181.1:p.Asn247Lys
XM_005260407.2:c.858T>A	XP_005260464.1:p.Asn286Lys
XM_011528797.1:c.789T>A	XP_011527099.1:p.Asn263Lys
XM_011528798.1:c.789T>A	XP_011527100.1:p.Asn263Lys
XM_005260407.4:c.858T>A	XP_005260464.1:p.Asn286Lys
NM_001030003.3:c.675T>A	NP_001025174.1:p.Asn225Lys
NM_001030004.3:c.675T>A	NP_001025175.1:p.Asn225Lys
NM_001258355.2:c.720T>A	NP_001245284.1:p.Asn240Lys
NM_001287182.2:c.666T>A	NP_001274111.1:p.Asn222Lys
NM_001287184.2:c.666T>A	NP_001274113.1:p.Asn222Lys
NM_178849.3:c.741T>A	NP_849180.1:p.Asn247Lys
NM_178850.3:c.741T>A	NP_849181.1:p.Asn247Lys
NM_000457.5:c.741T>A	NP_000448.3:p.Asn247Lys
NM_000457.6:c.741T>A	NP_000448.3:p.Asn247Lys
NM_001287183.2:c.666T>A	NP_001274112.1:p.Asn222Lys
NM_175914.5:c.675T>A MANE Select	NP_787110.2:p.Asn225Lys