Canonical Allele Identifier: CA658658873

Gene: HNF4A

Linked Data

• ClinVar Variation Id: 447513
• ClinVar RCV Id: RCV000518071 ; RCV003148763 ; RCV004527385
• dbSNP Id: rs1555817851
• MyVariant Identifiers: chr20:g.43052799del (hg19) ; chr20:g.44424159del (hg38)
• ERepo: CA658658873/MONDO:0015967/085

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44424159del , CM000682.2:g.44424159del	GRCh38
NC_000020.10:g.43052799del , CM000682.1:g.43052799del	GRCh37
NC_000020.9:g.42486213del	NCBI36
NG_009818.1:g.73359del , LRG_483:g.73359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316673.9:c.968del MANE Select	ENSP00000315180.4:p.Gln323ArgfsTer7
ENST00000316099.10:c.1034del	ENSP00000312987.3:p.Gln345ArgfsTer7
ENST00000619550.5:c.1008del
ENST00000316099.9:c.1034del	ENSP00000312987.3:p.Gln345ArgfsTer7
ENST00000316099.8:c.1034del	ENSP00000312987.3:p.Gln345ArgfsTer7
ENST00000316673.8:c.968del	ENSP00000315180.4:p.Gln323ArgfsTer7
ENST00000372920.1:c.*801del	ENSP00000362011.1:n.*801del
ENST00000415691.2:c.1034del	ENSP00000412111.1:p.Gln345ArgfsTer7
ENST00000443598.6:c.1034del	ENSP00000410911.2:p.Gln345ArgfsTer7
ENST00000457232.5:c.968del	ENSP00000396216.1:p.Gln323ArgfsTer7
ENST00000609795.5:c.968del	ENSP00000476609.1:p.Gln323ArgfsTer7
ENST00000619550.4:c.959del	ENSP00000481331.1:p.Gln320ArgfsTer7
NM_000457.4:c.1034del , LRG_483t2:c.1034del	NP_000448.3:p.Gln345ArgfsTer7
NM_001030003.2:c.968del	NP_001025174.1:p.Gln323ArgfsTer7
NM_001030004.2:c.968del	NP_001025175.1:p.Gln323ArgfsTer7
NM_001258355.1:c.1013del	NP_001245284.1:p.Gln338ArgfsTer7
NM_001287182.1:c.959del	NP_001274111.1:p.Gln320ArgfsTer7
NM_001287183.1:c.959del , LRG_483t3:c.959del	NP_001274112.1:p.Gln320ArgfsTer7
NM_001287184.1:c.959del	NP_001274113.1:p.Gln320ArgfsTer7
NM_175914.4:c.968del , LRG_483t1:c.968del	NP_787110.2:p.Gln323ArgfsTer7
NM_178849.2:c.1034del	NP_849180.1:p.Gln345ArgfsTer7
NM_178850.2:c.1034del	NP_849181.1:p.Gln345ArgfsTer7
XM_005260407.2:c.1151del	XP_005260464.1:p.Gln384ArgfsTer7
XM_011528797.1:c.1082del	XP_011527099.1:p.Gln361ArgfsTer7
XM_011528798.1:c.1082del	XP_011527100.1:p.Gln361ArgfsTer7
XM_005260407.4:c.1151del	XP_005260464.1:p.Gln384ArgfsTer7
NM_001030003.3:c.968del	NP_001025174.1:p.Gln323ArgfsTer7
NM_001030004.3:c.968del	NP_001025175.1:p.Gln323ArgfsTer7
NM_001258355.2:c.1013del	NP_001245284.1:p.Gln338ArgfsTer7
NM_001287182.2:c.959del	NP_001274111.1:p.Gln320ArgfsTer7
NM_001287184.2:c.959del	NP_001274113.1:p.Gln320ArgfsTer7
NM_178849.3:c.1034del	NP_849180.1:p.Gln345ArgfsTer7
NM_178850.3:c.1034del	NP_849181.1:p.Gln345ArgfsTer7
NM_000457.5:c.1034del	NP_000448.3:p.Gln345ArgfsTer7
NM_000457.6:c.1034del	NP_000448.3:p.Gln345ArgfsTer7
NM_001287183.2:c.959del	NP_001274112.1:p.Gln320ArgfsTer7
NM_175914.5:c.968del MANE Select	NP_787110.2:p.Gln323ArgfsTer7