Canonical Allele Identifier: CA153113

Gene: HNF4A

Linked Data

• ClinVar Variation Id: 129239
• ClinVar RCV Id: RCV000117237 ; RCV000268875 ; RCV000361090 ; RCV000710147 ; RCV002226672
• dbSNP Id: rs745975
• ExAC: 20:43034693 C / T
• gnomAD v2: 20-43034693-C-T
• gnomAD v3: 20-44406053-C-T
• gnomAD v4: 20-44406053-C-T
• MyVariant Identifiers: chr20:g.43034693C>T (hg19) ; chr20:g.44406053C>T (hg38)
• PubMed: PMID:9267996 ; PMID:9313765 ; PMID:9449683 ; PMID:10983627 ; PMID:15793260 ; PMID:16883527 ; PMID:16946562 ; PMID:17573900 ; PMID:18811724

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44406053C>T , CM000682.2:g.44406053C>T	GRCh38
NC_000020.10:g.43034693C>T , CM000682.1:g.43034693C>T	GRCh37
NC_000020.9:g.42468107C>T	NCBI36
NG_009818.1:g.55253C>T , LRG_483:g.55253C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000316673.9:c.50-5C>T MANE Select	ENSP00000315180.4:n.50-5C>T
ENST00000316099.10:c.116-5C>T	ENSP00000312987.3:n.116-5C>T
ENST00000619550.5:c.90-5C>T
ENST00000681977.1:c.92-5C>T	ENSP00000507189.1:n.92-5C>T
ENST00000682169.1:c.69-5C>T
ENST00000683148.1:n.92-5C>T
ENST00000683657.1:n.92-5C>T
ENST00000684046.1:c.92-5C>T	ENSP00000507555.1:n.92-5C>T
ENST00000684136.1:c.92-5C>T	ENSP00000507389.1:n.92-5C>T
ENST00000684476.1:c.73-5C>T	ENSP00000507529.1:n.73-5C>T
ENST00000316099.9:c.116-5C>T	ENSP00000312987.3:n.116-5C>T
ENST00000316099.8:c.116-5C>T	ENSP00000312987.3:n.116-5C>T
ENST00000316673.8:c.50-5C>T	ENSP00000315180.4:n.50-5C>T
ENST00000372920.1:c.207-5C>T	ENSP00000362011.1:n.207-5C>T
ENST00000415691.2:c.116-5C>T	ENSP00000412111.1:n.116-5C>T
ENST00000443598.6:c.116-5C>T	ENSP00000410911.2:n.116-5C>T
ENST00000457232.5:c.50-5C>T	ENSP00000396216.1:n.50-5C>T
ENST00000609262.5:c.41-5C>T	ENSP00000476310.1:n.41-5C>T
ENST00000609795.5:c.50-5C>T	ENSP00000476609.1:n.50-5C>T
ENST00000619550.4:c.41-5C>T	ENSP00000481331.1:n.41-5C>T
NM_000457.4:c.116-5C>T , LRG_483t2:c.116-5C>T	NP_000448.3:n.116-5C>T
NM_001030003.2:c.50-5C>T	NP_001025174.1:n.50-5C>T
NM_001030004.2:c.50-5C>T	NP_001025175.1:n.50-5C>T
NM_001258355.1:c.95-5C>T	NP_001245284.1:n.95-5C>T
NM_001287182.1:c.41-5C>T	NP_001274111.1:n.41-5C>T
NM_001287183.1:c.41-5C>T , LRG_483t3:c.41-5C>T	NP_001274112.1:n.41-5C>T
NM_001287184.1:c.41-5C>T	NP_001274113.1:n.41-5C>T
NM_175914.4:c.50-5C>T , LRG_483t1:c.50-5C>T	NP_787110.2:n.50-5C>T
NM_178849.2:c.116-5C>T	NP_849180.1:n.116-5C>T
NM_178850.2:c.116-5C>T	NP_849181.1:n.116-5C>T
XM_005260407.2:c.233-5C>T	XP_005260464.1:n.233-5C>T
XM_011528797.1:c.164-5C>T	XP_011527099.1:n.164-5C>T
XM_011528798.1:c.164-5C>T	XP_011527100.1:n.164-5C>T
XM_005260407.4:c.233-5C>T	XP_005260464.1:n.233-5C>T
NM_001030003.3:c.50-5C>T	NP_001025174.1:n.50-5C>T
NM_001030004.3:c.50-5C>T	NP_001025175.1:n.50-5C>T
NM_001258355.2:c.95-5C>T	NP_001245284.1:n.95-5C>T
NM_001287182.2:c.41-5C>T	NP_001274111.1:n.41-5C>T
NM_001287184.2:c.41-5C>T	NP_001274113.1:n.41-5C>T
NM_178849.3:c.116-5C>T	NP_849180.1:n.116-5C>T
NM_178850.3:c.116-5C>T	NP_849181.1:n.116-5C>T
NM_000457.5:c.116-5C>T	NP_000448.3:n.116-5C>T
NM_000457.6:c.116-5C>T	NP_000448.3:n.116-5C>T
NM_001287183.2:c.41-5C>T	NP_001274112.1:n.41-5C>T
NM_175914.5:c.50-5C>T MANE Select	NP_787110.2:n.50-5C>T