Canonical Allele Identifier: CA409107377

Gene: HNF4A

Linked Data

• MyVariant Identifiers: chr20:g.43048390C>G (hg19) ; chr20:g.44419750C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44419750C>G , CM000682.2:g.44419750C>G	GRCh38
NC_000020.10:g.43048390C>G , CM000682.1:g.43048390C>G	GRCh37
NC_000020.9:g.42481804C>G	NCBI36
NG_009818.1:g.68950C>G , LRG_483:g.68950C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316673.9:c.700C>G MANE Select	ENSP00000315180.4:p.Pro234Ala
ENST00000316099.10:c.766C>G	ENSP00000312987.3:p.Pro256Ala
ENST00000619550.5:c.740C>G
ENST00000683148.1:n.742C>G
ENST00000683657.1:n.1890C>G
ENST00000316099.9:c.766C>G	ENSP00000312987.3:p.Pro256Ala
ENST00000316099.8:c.766C>G	ENSP00000312987.3:p.Pro256Ala
ENST00000316673.8:c.700C>G	ENSP00000315180.4:p.Pro234Ala
ENST00000372920.1:c.*533C>G	ENSP00000362011.1:n.*533C>G
ENST00000415691.2:c.766C>G	ENSP00000412111.1:p.Pro256Ala
ENST00000443598.6:c.766C>G	ENSP00000410911.2:p.Pro256Ala
ENST00000457232.5:c.700C>G	ENSP00000396216.1:p.Pro234Ala
ENST00000609795.5:c.700C>G	ENSP00000476609.1:p.Pro234Ala
ENST00000619550.4:c.691C>G	ENSP00000481331.1:p.Pro231Ala
NM_000457.4:c.766C>G , LRG_483t2:c.766C>G	NP_000448.3:p.Pro256Ala
NM_001030003.2:c.700C>G	NP_001025174.1:p.Pro234Ala
NM_001030004.2:c.700C>G	NP_001025175.1:p.Pro234Ala
NM_001258355.1:c.745C>G	NP_001245284.1:p.Pro249Ala
NM_001287182.1:c.691C>G	NP_001274111.1:p.Pro231Ala
NM_001287183.1:c.691C>G , LRG_483t3:c.691C>G	NP_001274112.1:p.Pro231Ala
NM_001287184.1:c.691C>G	NP_001274113.1:p.Pro231Ala
NM_175914.4:c.700C>G , LRG_483t1:c.700C>G	NP_787110.2:p.Pro234Ala
NM_178849.2:c.766C>G	NP_849180.1:p.Pro256Ala
NM_178850.2:c.766C>G	NP_849181.1:p.Pro256Ala
XM_005260407.2:c.883C>G	XP_005260464.1:p.Pro295Ala
XM_011528797.1:c.814C>G	XP_011527099.1:p.Pro272Ala
XM_011528798.1:c.814C>G	XP_011527100.1:p.Pro272Ala
XM_005260407.4:c.883C>G	XP_005260464.1:p.Pro295Ala
NM_001030003.3:c.700C>G	NP_001025174.1:p.Pro234Ala
NM_001030004.3:c.700C>G	NP_001025175.1:p.Pro234Ala
NM_001258355.2:c.745C>G	NP_001245284.1:p.Pro249Ala
NM_001287182.2:c.691C>G	NP_001274111.1:p.Pro231Ala
NM_001287184.2:c.691C>G	NP_001274113.1:p.Pro231Ala
NM_178849.3:c.766C>G	NP_849180.1:p.Pro256Ala
NM_178850.3:c.766C>G	NP_849181.1:p.Pro256Ala
NM_000457.5:c.766C>G	NP_000448.3:p.Pro256Ala
NM_000457.6:c.766C>G	NP_000448.3:p.Pro256Ala
NM_001287183.2:c.691C>G	NP_001274112.1:p.Pro231Ala
NM_175914.5:c.700C>G MANE Select	NP_787110.2:p.Pro234Ala