Canonical Allele Identifier: CA409107352

Gene: HNF4A

Linked Data

• gnomAD v4: 20-44419738-C-T
• MyVariant Identifiers: chr20:g.43048378C>T (hg19) ; chr20:g.44419738C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44419738C>T , CM000682.2:g.44419738C>T	GRCh38
NC_000020.10:g.43048378C>T , CM000682.1:g.43048378C>T	GRCh37
NC_000020.9:g.42481792C>T	NCBI36
NG_009818.1:g.68938C>T , LRG_483:g.68938C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316673.9:c.688C>T MANE Select	ENSP00000315180.4:p.Pro230Ser
ENST00000316099.10:c.754C>T	ENSP00000312987.3:p.Pro252Ser
ENST00000619550.5:c.728C>T
ENST00000683148.1:n.730C>T
ENST00000683657.1:n.1878C>T
ENST00000316099.9:c.754C>T	ENSP00000312987.3:p.Pro252Ser
ENST00000316099.8:c.754C>T	ENSP00000312987.3:p.Pro252Ser
ENST00000316673.8:c.688C>T	ENSP00000315180.4:p.Pro230Ser
ENST00000372920.1:c.*521C>T	ENSP00000362011.1:n.*521C>T
ENST00000415691.2:c.754C>T	ENSP00000412111.1:p.Pro252Ser
ENST00000443598.6:c.754C>T	ENSP00000410911.2:p.Pro252Ser
ENST00000457232.5:c.688C>T	ENSP00000396216.1:p.Pro230Ser
ENST00000609795.5:c.688C>T	ENSP00000476609.1:p.Pro230Ser
ENST00000619550.4:c.679C>T	ENSP00000481331.1:p.Pro227Ser
NM_000457.4:c.754C>T , LRG_483t2:c.754C>T	NP_000448.3:p.Pro252Ser
NM_001030003.2:c.688C>T	NP_001025174.1:p.Pro230Ser
NM_001030004.2:c.688C>T	NP_001025175.1:p.Pro230Ser
NM_001258355.1:c.733C>T	NP_001245284.1:p.Pro245Ser
NM_001287182.1:c.679C>T	NP_001274111.1:p.Pro227Ser
NM_001287183.1:c.679C>T , LRG_483t3:c.679C>T	NP_001274112.1:p.Pro227Ser
NM_001287184.1:c.679C>T	NP_001274113.1:p.Pro227Ser
NM_175914.4:c.688C>T , LRG_483t1:c.688C>T	NP_787110.2:p.Pro230Ser
NM_178849.2:c.754C>T	NP_849180.1:p.Pro252Ser
NM_178850.2:c.754C>T	NP_849181.1:p.Pro252Ser
XM_005260407.2:c.871C>T	XP_005260464.1:p.Pro291Ser
XM_011528797.1:c.802C>T	XP_011527099.1:p.Pro268Ser
XM_011528798.1:c.802C>T	XP_011527100.1:p.Pro268Ser
XM_005260407.4:c.871C>T	XP_005260464.1:p.Pro291Ser
NM_001030003.3:c.688C>T	NP_001025174.1:p.Pro230Ser
NM_001030004.3:c.688C>T	NP_001025175.1:p.Pro230Ser
NM_001258355.2:c.733C>T	NP_001245284.1:p.Pro245Ser
NM_001287182.2:c.679C>T	NP_001274111.1:p.Pro227Ser
NM_001287184.2:c.679C>T	NP_001274113.1:p.Pro227Ser
NM_178849.3:c.754C>T	NP_849180.1:p.Pro252Ser
NM_178850.3:c.754C>T	NP_849181.1:p.Pro252Ser
NM_000457.5:c.754C>T	NP_000448.3:p.Pro252Ser
NM_000457.6:c.754C>T	NP_000448.3:p.Pro252Ser
NM_001287183.2:c.679C>T	NP_001274112.1:p.Pro227Ser
NM_175914.5:c.688C>T MANE Select	NP_787110.2:p.Pro230Ser