Canonical Allele Identifier: CA510583042

Gene: HNF4A

Linked Data

• gnomAD v4: 20-44424245-C-T
• MyVariant Identifiers: chr20:g.43052885C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44424245C>T , CM000682.2:g.44424245C>T	GRCh38
NC_000020.10:g.43052885C>T , CM000682.1:g.43052885C>T	GRCh37
NC_000020.9:g.42486299C>T	NCBI36
NG_009818.1:g.73445C>T , LRG_483:g.73445C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000316673.9:c.1054C>T MANE Select	ENSP00000315180.4:p.Leu352=
ENST00000316099.10:c.1120C>T	ENSP00000312987.3:p.Leu374=
ENST00000619550.5:c.1094C>T
ENST00000316099.9:c.1120C>T	ENSP00000312987.3:p.Leu374=
ENST00000316099.8:c.1120C>T	ENSP00000312987.3:p.Leu374=
ENST00000316673.8:c.1054C>T	ENSP00000315180.4:p.Leu352=
ENST00000372920.1:c.*887C>T	ENSP00000362011.1:n.*887C>T
ENST00000415691.2:c.1120C>T	ENSP00000412111.1:p.Leu374=
ENST00000443598.6:c.1120C>T	ENSP00000410911.2:p.Leu374=
ENST00000457232.5:c.1054C>T	ENSP00000396216.1:p.Leu352=
ENST00000609795.5:c.1054C>T	ENSP00000476609.1:p.Leu352=
ENST00000619550.4:c.1045C>T	ENSP00000481331.1:p.Leu349=
NM_000457.4:c.1120C>T , LRG_483t2:c.1120C>T	NP_000448.3:p.Leu374=
NM_001030003.2:c.1054C>T	NP_001025174.1:p.Leu352=
NM_001030004.2:c.1054C>T	NP_001025175.1:p.Leu352=
NM_001258355.1:c.1099C>T	NP_001245284.1:p.Leu367=
NM_001287182.1:c.1045C>T	NP_001274111.1:p.Leu349=
NM_001287183.1:c.1045C>T , LRG_483t3:c.1045C>T	NP_001274112.1:p.Leu349=
NM_001287184.1:c.1045C>T	NP_001274113.1:p.Leu349=
NM_175914.4:c.1054C>T , LRG_483t1:c.1054C>T	NP_787110.2:p.Leu352=
NM_178849.2:c.1120C>T	NP_849180.1:p.Leu374=
NM_178850.2:c.1120C>T	NP_849181.1:p.Leu374=
XM_005260407.2:c.1237C>T	XP_005260464.1:p.Leu413=
XM_011528797.1:c.1168C>T	XP_011527099.1:p.Leu390=
XM_011528798.1:c.1168C>T	XP_011527100.1:p.Leu390=
XM_005260407.4:c.1237C>T	XP_005260464.1:p.Leu413=
NM_001030003.3:c.1054C>T	NP_001025174.1:p.Leu352=
NM_001030004.3:c.1054C>T	NP_001025175.1:p.Leu352=
NM_001258355.2:c.1099C>T	NP_001245284.1:p.Leu367=
NM_001287182.2:c.1045C>T	NP_001274111.1:p.Leu349=
NM_001287184.2:c.1045C>T	NP_001274113.1:p.Leu349=
NM_178849.3:c.1120C>T	NP_849180.1:p.Leu374=
NM_178850.3:c.1120C>T	NP_849181.1:p.Leu374=
NM_000457.5:c.1120C>T	NP_000448.3:p.Leu374=
NM_000457.6:c.1120C>T	NP_000448.3:p.Leu374=
NM_001287183.2:c.1045C>T	NP_001274112.1:p.Leu349=
NM_175914.5:c.1054C>T MANE Select	NP_787110.2:p.Leu352=