Canonical Allele Identifier: CA153106
Community Standard Title: NM_175914.5(HNF4A):c.135C>T (p.Ala45=)
Gene: HNF4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44406143C>T , CM000682.2:g.44406143C>T GRCh38
NC_000020.10:g.43034783C>T , CM000682.1:g.43034783C>T GRCh37
NC_000020.9:g.42468197C>T NCBI36
NG_009818.1:g.55343C>T , LRG_483:g.55343C>T

Transcript Alleles

HGVS Amino-acid Change
NM_175914.5:c.135C>T MANE Select NP_787110.2:p.Ala45=
ENST00000316673.9:c.135C>T MANE Select ENSP00000315180.4:p.Ala45=
NM_000457.4:c.201C>T , LRG_483t2:c.201C>T NP_000448.3:p.Ala67=
NM_000457.5:c.201C>T NP_000448.3:p.Ala67=
NM_000457.6:c.201C>T NP_000448.3:p.Ala67=
NM_001030003.2:c.135C>T NP_001025174.1:p.Ala45=
NM_001030003.3:c.135C>T NP_001025174.1:p.Ala45=
NM_001030004.2:c.135C>T NP_001025175.1:p.Ala45=
NM_001030004.3:c.135C>T NP_001025175.1:p.Ala45=
NM_001258355.1:c.180C>T NP_001245284.1:p.Ala60=
NM_001258355.2:c.180C>T NP_001245284.1:p.Ala60=
NM_001287182.1:c.126C>T NP_001274111.1:p.Ala42=
NM_001287182.2:c.126C>T NP_001274111.1:p.Ala42=
NM_001287183.1:c.126C>T , LRG_483t3:c.126C>T NP_001274112.1:p.Ala42=
NM_001287183.2:c.126C>T NP_001274112.1:p.Ala42=
NM_001287184.1:c.126C>T NP_001274113.1:p.Ala42=
NM_001287184.2:c.126C>T NP_001274113.1:p.Ala42=
NM_175914.4:c.135C>T , LRG_483t1:c.135C>T NP_787110.2:p.Ala45=
NM_178849.2:c.201C>T NP_849180.1:p.Ala67=
NM_178849.3:c.201C>T NP_849180.1:p.Ala67=
NM_178850.2:c.201C>T NP_849181.1:p.Ala67=
NM_178850.3:c.201C>T NP_849181.1:p.Ala67=
ENST00000316099.10:c.201C>T ENSP00000312987.3:p.Ala67=
ENST00000316099.8:c.201C>T ENSP00000312987.3:p.Ala67=
ENST00000316099.9:c.201C>T ENSP00000312987.3:p.Ala67=
ENST00000316673.8:c.135C>T ENSP00000315180.4:p.Ala45=
ENST00000372920.1:c.292C>T ENSP00000362011.1:p.His98Tyr
ENST00000415691.2:c.201C>T ENSP00000412111.1:p.Ala67=
ENST00000443598.6:c.201C>T ENSP00000410911.2:p.Ala67=
ENST00000457232.5:c.135C>T ENSP00000396216.1:p.Ala45=
ENST00000609262.5:c.126C>T ENSP00000476310.1:p.Ala42=
ENST00000609795.5:c.135C>T ENSP00000476609.1:p.Ala45=
ENST00000619550.4:c.126C>T ENSP00000481331.1:p.Ala42=
ENST00000619550.5:c.175C>T
ENST00000681977.1:c.177C>T ENSP00000507189.1:p.Ala59=
ENST00000682169.1:c.154C>T
ENST00000683148.1:n.177C>T
ENST00000683657.1:n.177C>T
ENST00000684046.1:c.177C>T ENSP00000507555.1:p.Ala59=
ENST00000684136.1:c.177C>T ENSP00000507389.1:p.Ala59=
ENST00000684476.1:c.158C>T ENSP00000507529.1:p.Pro53Leu
XM_005260407.2:c.318C>T XP_005260464.1:p.Ala106=
XM_005260407.4:c.318C>T XP_005260464.1:p.Ala106=
XM_011528797.1:c.249C>T XP_011527099.1:p.Ala83=
XM_011528798.1:c.249C>T XP_011527100.1:p.Ala83=