Canonical Allele Identifier: CA510582821

Gene: HNF4A

Linked Data

• gnomAD v4: 20-44419740-T-G
• MyVariant Identifiers: chr20:g.43048380T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44419740T>G , CM000682.2:g.44419740T>G	GRCh38
NC_000020.10:g.43048380T>G , CM000682.1:g.43048380T>G	GRCh37
NC_000020.9:g.42481794T>G	NCBI36
NG_009818.1:g.68940T>G , LRG_483:g.68940T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316673.9:c.690T>G MANE Select	ENSP00000315180.4:p.Pro230=
ENST00000316099.10:c.756T>G	ENSP00000312987.3:p.Pro252=
ENST00000619550.5:c.730T>G
ENST00000683148.1:n.732T>G
ENST00000683657.1:n.1880T>G
ENST00000316099.9:c.756T>G	ENSP00000312987.3:p.Pro252=
ENST00000316099.8:c.756T>G	ENSP00000312987.3:p.Pro252=
ENST00000316673.8:c.690T>G	ENSP00000315180.4:p.Pro230=
ENST00000372920.1:c.*523T>G	ENSP00000362011.1:n.*523T>G
ENST00000415691.2:c.756T>G	ENSP00000412111.1:p.Pro252=
ENST00000443598.6:c.756T>G	ENSP00000410911.2:p.Pro252=
ENST00000457232.5:c.690T>G	ENSP00000396216.1:p.Pro230=
ENST00000609795.5:c.690T>G	ENSP00000476609.1:p.Pro230=
ENST00000619550.4:c.681T>G	ENSP00000481331.1:p.Pro227=
NM_000457.4:c.756T>G , LRG_483t2:c.756T>G	NP_000448.3:p.Pro252=
NM_001030003.2:c.690T>G	NP_001025174.1:p.Pro230=
NM_001030004.2:c.690T>G	NP_001025175.1:p.Pro230=
NM_001258355.1:c.735T>G	NP_001245284.1:p.Pro245=
NM_001287182.1:c.681T>G	NP_001274111.1:p.Pro227=
NM_001287183.1:c.681T>G , LRG_483t3:c.681T>G	NP_001274112.1:p.Pro227=
NM_001287184.1:c.681T>G	NP_001274113.1:p.Pro227=
NM_175914.4:c.690T>G , LRG_483t1:c.690T>G	NP_787110.2:p.Pro230=
NM_178849.2:c.756T>G	NP_849180.1:p.Pro252=
NM_178850.2:c.756T>G	NP_849181.1:p.Pro252=
XM_005260407.2:c.873T>G	XP_005260464.1:p.Pro291=
XM_011528797.1:c.804T>G	XP_011527099.1:p.Pro268=
XM_011528798.1:c.804T>G	XP_011527100.1:p.Pro268=
XM_005260407.4:c.873T>G	XP_005260464.1:p.Pro291=
NM_001030003.3:c.690T>G	NP_001025174.1:p.Pro230=
NM_001030004.3:c.690T>G	NP_001025175.1:p.Pro230=
NM_001258355.2:c.735T>G	NP_001245284.1:p.Pro245=
NM_001287182.2:c.681T>G	NP_001274111.1:p.Pro227=
NM_001287184.2:c.681T>G	NP_001274113.1:p.Pro227=
NM_178849.3:c.756T>G	NP_849180.1:p.Pro252=
NM_178850.3:c.756T>G	NP_849181.1:p.Pro252=
NM_000457.5:c.756T>G	NP_000448.3:p.Pro252=
NM_000457.6:c.756T>G	NP_000448.3:p.Pro252=
NM_001287183.2:c.681T>G	NP_001274112.1:p.Pro227=
NM_175914.5:c.690T>G MANE Select	NP_787110.2:p.Pro230=