Canonical Allele Identifier: CA315411422

Gene: HNF4A

Linked Data

• ClinVar Variation Id: 2581134
• ClinVar RCV Id: RCV003330376
• dbSNP Id: rs1032055611
• gnomAD v4: 20-44419784-G-A
• COSMIC: COSM4690813 ; COSM4690814 ; COSM4690815
• MyVariant Identifiers: chr20:g.43048424G>A (hg19) ; chr20:g.44419784G>A (hg38)
• ERepo: CA315411422/MONDO:0015967/085

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44419784G>A , CM000682.2:g.44419784G>A	GRCh38
NC_000020.10:g.43048424G>A , CM000682.1:g.43048424G>A	GRCh37
NC_000020.9:g.42481838G>A	NCBI36
NG_009818.1:g.68984G>A , LRG_483:g.68984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316673.9:c.734G>A MANE Select	ENSP00000315180.4:p.Arg245His
ENST00000316099.10:c.800G>A	ENSP00000312987.3:p.Arg267His
ENST00000619550.5:c.774G>A
ENST00000683148.1:n.776G>A
ENST00000683657.1:n.1924G>A
ENST00000316099.9:c.800G>A	ENSP00000312987.3:p.Arg267His
ENST00000316099.8:c.800G>A	ENSP00000312987.3:p.Arg267His
ENST00000316673.8:c.734G>A	ENSP00000315180.4:p.Arg245His
ENST00000372920.1:c.*567G>A	ENSP00000362011.1:n.*567G>A
ENST00000415691.2:c.800G>A	ENSP00000412111.1:p.Arg267His
ENST00000443598.6:c.800G>A	ENSP00000410911.2:p.Arg267His
ENST00000457232.5:c.734G>A	ENSP00000396216.1:p.Arg245His
ENST00000609795.5:c.734G>A	ENSP00000476609.1:p.Arg245His
ENST00000619550.4:c.725G>A	ENSP00000481331.1:p.Arg242His
NM_000457.4:c.800G>A , LRG_483t2:c.800G>A	NP_000448.3:p.Arg267His
NM_001030003.2:c.734G>A	NP_001025174.1:p.Arg245His
NM_001030004.2:c.734G>A	NP_001025175.1:p.Arg245His
NM_001258355.1:c.779G>A	NP_001245284.1:p.Arg260His
NM_001287182.1:c.725G>A	NP_001274111.1:p.Arg242His
NM_001287183.1:c.725G>A , LRG_483t3:c.725G>A	NP_001274112.1:p.Arg242His
NM_001287184.1:c.725G>A	NP_001274113.1:p.Arg242His
NM_175914.4:c.734G>A , LRG_483t1:c.734G>A	NP_787110.2:p.Arg245His
NM_178849.2:c.800G>A	NP_849180.1:p.Arg267His
NM_178850.2:c.800G>A	NP_849181.1:p.Arg267His
XM_005260407.2:c.917G>A	XP_005260464.1:p.Arg306His
XM_011528797.1:c.848G>A	XP_011527099.1:p.Arg283His
XM_011528798.1:c.848G>A	XP_011527100.1:p.Arg283His
XM_005260407.4:c.917G>A	XP_005260464.1:p.Arg306His
NM_001030003.3:c.734G>A	NP_001025174.1:p.Arg245His
NM_001030004.3:c.734G>A	NP_001025175.1:p.Arg245His
NM_001258355.2:c.779G>A	NP_001245284.1:p.Arg260His
NM_001287182.2:c.725G>A	NP_001274111.1:p.Arg242His
NM_001287184.2:c.725G>A	NP_001274113.1:p.Arg242His
NM_178849.3:c.800G>A	NP_849180.1:p.Arg267His
NM_178850.3:c.800G>A	NP_849181.1:p.Arg267His
NM_000457.5:c.800G>A	NP_000448.3:p.Arg267His
NM_000457.6:c.800G>A	NP_000448.3:p.Arg267His
NM_001287183.2:c.725G>A	NP_001274112.1:p.Arg242His
NM_175914.5:c.734G>A MANE Select	NP_787110.2:p.Arg245His