Canonical Allele Identifier: CA170773

Gene: HNF4A

Linked Data

• ClinVar Variation Id: 156152
• ClinVar RCV Id: RCV002408643
• dbSNP Id: rs587777732
• COSMIC: COSM1731194 ; COSM1731195 ; COSM1731196
• MyVariant Identifiers: chr20:g.43034835C>T (hg19) ; chr20:g.44406195C>T (hg38)
• ERepo: CA170773/MONDO:0015967/085
• PubMed: PMID:22802087 ; PMID:24285859

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44406195C>T , CM000682.2:g.44406195C>T	GRCh38
NC_000020.10:g.43034835C>T , CM000682.1:g.43034835C>T	GRCh37
NC_000020.9:g.42468249C>T	NCBI36
NG_009818.1:g.55395C>T , LRG_483:g.55395C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000316673.9:c.187C>T MANE Select	ENSP00000315180.4:p.Arg63Trp
ENST00000316099.10:c.253C>T	ENSP00000312987.3:p.Arg85Trp
ENST00000619550.5:c.227C>T
ENST00000681977.1:c.229C>T	ENSP00000507189.1:p.Arg77Trp
ENST00000682169.1:c.206C>T
ENST00000683148.1:n.229C>T
ENST00000683657.1:n.229C>T
ENST00000684046.1:c.229C>T	ENSP00000507555.1:p.Arg77Trp
ENST00000684136.1:c.229C>T	ENSP00000507389.1:p.Arg77Trp
ENST00000684476.1:c.210C>T	ENSP00000507529.1:p.Ser70=
ENST00000316099.9:c.253C>T	ENSP00000312987.3:p.Arg85Trp
ENST00000316099.8:c.253C>T	ENSP00000312987.3:p.Arg85Trp
ENST00000316673.8:c.187C>T	ENSP00000315180.4:p.Arg63Trp
ENST00000372920.1:c.*20C>T	ENSP00000362011.1:n.*20C>T
ENST00000415691.2:c.253C>T	ENSP00000412111.1:p.Arg85Trp
ENST00000443598.6:c.253C>T	ENSP00000410911.2:p.Arg85Trp
ENST00000457232.5:c.187C>T	ENSP00000396216.1:p.Arg63Trp
ENST00000609262.5:c.178C>T	ENSP00000476310.1:p.Arg60Trp
ENST00000609795.5:c.187C>T	ENSP00000476609.1:p.Arg63Trp
ENST00000619550.4:c.178C>T	ENSP00000481331.1:p.Arg60Trp
NM_000457.4:c.253C>T , LRG_483t2:c.253C>T	NP_000448.3:p.Arg85Trp
NM_001030003.2:c.187C>T	NP_001025174.1:p.Arg63Trp
NM_001030004.2:c.187C>T	NP_001025175.1:p.Arg63Trp
NM_001258355.1:c.232C>T	NP_001245284.1:p.Arg78Trp
NM_001287182.1:c.178C>T	NP_001274111.1:p.Arg60Trp
NM_001287183.1:c.178C>T , LRG_483t3:c.178C>T	NP_001274112.1:p.Arg60Trp
NM_001287184.1:c.178C>T	NP_001274113.1:p.Arg60Trp
NM_175914.4:c.187C>T , LRG_483t1:c.187C>T	NP_787110.2:p.Arg63Trp
NM_178849.2:c.253C>T	NP_849180.1:p.Arg85Trp
NM_178850.2:c.253C>T	NP_849181.1:p.Arg85Trp
XM_005260407.2:c.370C>T	XP_005260464.1:p.Arg124Trp
XM_011528797.1:c.301C>T	XP_011527099.1:p.Arg101Trp
XM_011528798.1:c.301C>T	XP_011527100.1:p.Arg101Trp
XM_005260407.4:c.370C>T	XP_005260464.1:p.Arg124Trp
NM_001030003.3:c.187C>T	NP_001025174.1:p.Arg63Trp
NM_001030004.3:c.187C>T	NP_001025175.1:p.Arg63Trp
NM_001258355.2:c.232C>T	NP_001245284.1:p.Arg78Trp
NM_001287182.2:c.178C>T	NP_001274111.1:p.Arg60Trp
NM_001287184.2:c.178C>T	NP_001274113.1:p.Arg60Trp
NM_178849.3:c.253C>T	NP_849180.1:p.Arg85Trp
NM_178850.3:c.253C>T	NP_849181.1:p.Arg85Trp
NM_000457.5:c.253C>T	NP_000448.3:p.Arg85Trp
NM_000457.6:c.253C>T	NP_000448.3:p.Arg85Trp
NM_001287183.2:c.178C>T	NP_001274112.1:p.Arg60Trp
NM_175914.5:c.187C>T MANE Select	NP_787110.2:p.Arg63Trp