Canonical Allele Identifier: CA2582342725

Gene: HNF4A

Linked Data

• ClinVar Variation Id: 2581500
• ClinVar RCV Id: RCV003331905

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44419735_44419736insCCCTCGGCACTGCCCACATTG , CM000682.2:g.44419735_44419736insCCCTCGGCACTGCCCACATTG	GRCh38
NC_000020.10:g.43048375_43048376insCCCTCGGCACTGCCCACATTG , CM000682.1:g.43048375_43048376insCCCTCGGCACTGCCCACATTG	GRCh37
NC_000020.9:g.42481789_42481790insCCCTCGGCACTGCCCACATTG	NCBI36
NG_009818.1:g.68935_68936insCCCTCGGCACTGCCCACATTG , LRG_483:g.68935_68936insCCCTCGGCACTGCCCACATTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316673.9:c.685_686insCCCTCGGCACTGCCCACATTG MANE Select	ENSP00000315180.4:p.Ile228_Val229insAlaLeuGlyThrAlaHisIle
ENST00000316099.10:c.751_752insCCCTCGGCACTGCCCACATTG	ENSP00000312987.3:p.Ile250_Val251insAlaLeuGlyThrAlaHisIle
ENST00000619550.5:c.725_726insCCCTCGGCACTGCCCACATTG
ENST00000683148.1:n.727_728insCCCTCGGCACTGCCCACATTG
ENST00000683657.1:n.1875_1876insCCCTCGGCACTGCCCACATTG
ENST00000316099.9:c.751_752insCCCTCGGCACTGCCCACATTG	ENSP00000312987.3:p.Ile250_Val251insAlaLeuGlyThrAlaHisIle
ENST00000316099.8:c.751_752insCCCTCGGCACTGCCCACATTG	ENSP00000312987.3:p.Ile250_Val251insAlaLeuGlyThrAlaHisIle
ENST00000316673.8:c.685_686insCCCTCGGCACTGCCCACATTG	ENSP00000315180.4:p.Ile228_Val229insAlaLeuGlyThrAlaHisIle
ENST00000372920.1:c.*518_*519insCCCTCGGCACTGCCCACATTG	ENSP00000362011.1:n.*518_*519insCCCTCGGCACTGCCCACATTG
ENST00000415691.2:c.751_752insCCCTCGGCACTGCCCACATTG	ENSP00000412111.1:p.Ile250_Val251insAlaLeuGlyThrAlaHisIle
ENST00000443598.6:c.751_752insCCCTCGGCACTGCCCACATTG	ENSP00000410911.2:p.Ile250_Val251insAlaLeuGlyThrAlaHisIle
ENST00000457232.5:c.685_686insCCCTCGGCACTGCCCACATTG	ENSP00000396216.1:p.Ile228_Val229insAlaLeuGlyThrAlaHisIle
ENST00000609795.5:c.685_686insCCCTCGGCACTGCCCACATTG	ENSP00000476609.1:p.Ile228_Val229insAlaLeuGlyThrAlaHisIle
ENST00000619550.4:c.676_677insCCCTCGGCACTGCCCACATTG	ENSP00000481331.1:p.Ile225_Val226insAlaLeuGlyThrAlaHisIle
NM_000457.4:c.751_752insCCCTCGGCACTGCCCACATTG , LRG_483t2:c.751_752insCCCTCGGCACTGCCCACATTG	NP_000448.3:p.Ile250_Val251insAlaLeuGlyThrAlaHisIle
NM_001030003.2:c.685_686insCCCTCGGCACTGCCCACATTG	NP_001025174.1:p.Ile228_Val229insAlaLeuGlyThrAlaHisIle
NM_001030004.2:c.685_686insCCCTCGGCACTGCCCACATTG	NP_001025175.1:p.Ile228_Val229insAlaLeuGlyThrAlaHisIle
NM_001258355.1:c.730_731insCCCTCGGCACTGCCCACATTG	NP_001245284.1:p.Ile243_Val244insAlaLeuGlyThrAlaHisIle
NM_001287182.1:c.676_677insCCCTCGGCACTGCCCACATTG	NP_001274111.1:p.Ile225_Val226insAlaLeuGlyThrAlaHisIle
NM_001287183.1:c.676_677insCCCTCGGCACTGCCCACATTG , LRG_483t3:c.676_677insCCCTCGGCACTGCCCACATTG	NP_001274112.1:p.Ile225_Val226insAlaLeuGlyThrAlaHisIle
NM_001287184.1:c.676_677insCCCTCGGCACTGCCCACATTG	NP_001274113.1:p.Ile225_Val226insAlaLeuGlyThrAlaHisIle
NM_175914.4:c.685_686insCCCTCGGCACTGCCCACATTG , LRG_483t1:c.685_686insCCCTCGGCACTGCCCACATTG	NP_787110.2:p.Ile228_Val229insAlaLeuGlyThrAlaHisIle
NM_178849.2:c.751_752insCCCTCGGCACTGCCCACATTG	NP_849180.1:p.Ile250_Val251insAlaLeuGlyThrAlaHisIle
NM_178850.2:c.751_752insCCCTCGGCACTGCCCACATTG	NP_849181.1:p.Ile250_Val251insAlaLeuGlyThrAlaHisIle
XM_005260407.2:c.868_869insCCCTCGGCACTGCCCACATTG	XP_005260464.1:p.Ile289_Val290insAlaLeuGlyThrAlaHisIle
XM_011528797.1:c.799_800insCCCTCGGCACTGCCCACATTG	XP_011527099.1:p.Ile266_Val267insAlaLeuGlyThrAlaHisIle
XM_011528798.1:c.799_800insCCCTCGGCACTGCCCACATTG	XP_011527100.1:p.Ile266_Val267insAlaLeuGlyThrAlaHisIle
XM_005260407.4:c.868_869insCCCTCGGCACTGCCCACATTG	XP_005260464.1:p.Ile289_Val290insAlaLeuGlyThrAlaHisIle
NM_001030003.3:c.685_686insCCCTCGGCACTGCCCACATTG	NP_001025174.1:p.Ile228_Val229insAlaLeuGlyThrAlaHisIle
NM_001030004.3:c.685_686insCCCTCGGCACTGCCCACATTG	NP_001025175.1:p.Ile228_Val229insAlaLeuGlyThrAlaHisIle
NM_001258355.2:c.730_731insCCCTCGGCACTGCCCACATTG	NP_001245284.1:p.Ile243_Val244insAlaLeuGlyThrAlaHisIle
NM_001287182.2:c.676_677insCCCTCGGCACTGCCCACATTG	NP_001274111.1:p.Ile225_Val226insAlaLeuGlyThrAlaHisIle
NM_001287184.2:c.676_677insCCCTCGGCACTGCCCACATTG	NP_001274113.1:p.Ile225_Val226insAlaLeuGlyThrAlaHisIle
NM_178849.3:c.751_752insCCCTCGGCACTGCCCACATTG	NP_849180.1:p.Ile250_Val251insAlaLeuGlyThrAlaHisIle
NM_178850.3:c.751_752insCCCTCGGCACTGCCCACATTG	NP_849181.1:p.Ile250_Val251insAlaLeuGlyThrAlaHisIle
NM_000457.5:c.751_752insCCCTCGGCACTGCCCACATTG	NP_000448.3:p.Ile250_Val251insAlaLeuGlyThrAlaHisIle
NM_000457.6:c.751_752insCCCTCGGCACTGCCCACATTG	NP_000448.3:p.Ile250_Val251insAlaLeuGlyThrAlaHisIle
NM_001287183.2:c.676_677insCCCTCGGCACTGCCCACATTG	NP_001274112.1:p.Ile225_Val226insAlaLeuGlyThrAlaHisIle
NM_175914.5:c.685_686insCCCTCGGCACTGCCCACATTG MANE Select	NP_787110.2:p.Ile228_Val229insAlaLeuGlyThrAlaHisIle