Canonical Allele Identifier: CA409105826

Gene: HNF4A

Linked Data

• gnomAD v4: 20-44413798-C-A
• MyVariant Identifiers: chr20:g.43042438C>A (hg19) ; chr20:g.44413798C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44413798C>A , CM000682.2:g.44413798C>A	GRCh38
NC_000020.10:g.43042438C>A , CM000682.1:g.43042438C>A	GRCh37
NC_000020.9:g.42475852C>A	NCBI36
NG_009818.1:g.62998C>A , LRG_483:g.62998C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316673.9:c.424C>A MANE Select	ENSP00000315180.4:p.Gln142Lys
ENST00000316099.10:c.490C>A	ENSP00000312987.3:p.Gln164Lys
ENST00000619550.5:c.464C>A
ENST00000683148.1:n.466C>A
ENST00000683657.1:n.1614C>A
ENST00000316099.9:c.490C>A	ENSP00000312987.3:p.Gln164Lys
ENST00000316099.8:c.490C>A	ENSP00000312987.3:p.Gln164Lys
ENST00000316673.8:c.424C>A	ENSP00000315180.4:p.Gln142Lys
ENST00000372920.1:c.*257C>A	ENSP00000362011.1:n.*257C>A
ENST00000415691.2:c.490C>A	ENSP00000412111.1:p.Gln164Lys
ENST00000443598.6:c.490C>A	ENSP00000410911.2:p.Gln164Lys
ENST00000457232.5:c.424C>A	ENSP00000396216.1:p.Gln142Lys
ENST00000609795.5:c.424C>A	ENSP00000476609.1:p.Gln142Lys
ENST00000619550.4:c.415C>A	ENSP00000481331.1:p.Gln139Lys
NM_000457.4:c.490C>A , LRG_483t2:c.490C>A	NP_000448.3:p.Gln164Lys
NM_001030003.2:c.424C>A	NP_001025174.1:p.Gln142Lys
NM_001030004.2:c.424C>A	NP_001025175.1:p.Gln142Lys
NM_001258355.1:c.469C>A	NP_001245284.1:p.Gln157Lys
NM_001287182.1:c.415C>A	NP_001274111.1:p.Gln139Lys
NM_001287183.1:c.415C>A , LRG_483t3:c.415C>A	NP_001274112.1:p.Gln139Lys
NM_001287184.1:c.415C>A	NP_001274113.1:p.Gln139Lys
NM_175914.4:c.424C>A , LRG_483t1:c.424C>A	NP_787110.2:p.Gln142Lys
NM_178849.2:c.490C>A	NP_849180.1:p.Gln164Lys
NM_178850.2:c.490C>A	NP_849181.1:p.Gln164Lys
XM_005260407.2:c.607C>A	XP_005260464.1:p.Gln203Lys
XM_011528797.1:c.538C>A	XP_011527099.1:p.Gln180Lys
XM_011528798.1:c.538C>A	XP_011527100.1:p.Gln180Lys
XM_005260407.4:c.607C>A	XP_005260464.1:p.Gln203Lys
NM_001030003.3:c.424C>A	NP_001025174.1:p.Gln142Lys
NM_001030004.3:c.424C>A	NP_001025175.1:p.Gln142Lys
NM_001258355.2:c.469C>A	NP_001245284.1:p.Gln157Lys
NM_001287182.2:c.415C>A	NP_001274111.1:p.Gln139Lys
NM_001287184.2:c.415C>A	NP_001274113.1:p.Gln139Lys
NM_178849.3:c.490C>A	NP_849180.1:p.Gln164Lys
NM_178850.3:c.490C>A	NP_849181.1:p.Gln164Lys
NM_000457.5:c.490C>A	NP_000448.3:p.Gln164Lys
NM_000457.6:c.490C>A	NP_000448.3:p.Gln164Lys
NM_001287183.2:c.415C>A	NP_001274112.1:p.Gln139Lys
NM_175914.5:c.424C>A MANE Select	NP_787110.2:p.Gln142Lys