Canonical Allele Identifier: CA409105663
Gene: HNF4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.43042393C>A (hg19) chr20:g.44413753C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44413753C>A , CM000682.2:g.44413753C>A GRCh38
NC_000020.10:g.43042393C>A , CM000682.1:g.43042393C>A GRCh37
NC_000020.9:g.42475807C>A NCBI36
NG_009818.1:g.62953C>A , LRG_483:g.62953C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.379C>A MANE Select ENSP00000315180.4:p.Leu127Met
ENST00000316099.10:c.445C>A ENSP00000312987.3:p.Leu149Met
ENST00000619550.5:c.419C>A
ENST00000683148.1:n.421C>A
ENST00000683657.1:n.1569C>A
ENST00000316099.9:c.445C>A ENSP00000312987.3:p.Leu149Met
ENST00000316099.8:c.445C>A ENSP00000312987.3:p.Leu149Met
ENST00000316673.8:c.379C>A ENSP00000315180.4:p.Leu127Met
ENST00000372920.1:c.*212C>A ENSP00000362011.1:n.*212C>A
ENST00000415691.2:c.445C>A ENSP00000412111.1:p.Leu149Met
ENST00000443598.6:c.445C>A ENSP00000410911.2:p.Leu149Met
ENST00000457232.5:c.379C>A ENSP00000396216.1:p.Leu127Met
ENST00000609795.5:c.379C>A ENSP00000476609.1:p.Leu127Met
ENST00000619550.4:c.370C>A ENSP00000481331.1:p.Leu124Met
NM_000457.4:c.445C>A , LRG_483t2:c.445C>A NP_000448.3:p.Leu149Met
NM_001030003.2:c.379C>A NP_001025174.1:p.Leu127Met
NM_001030004.2:c.379C>A NP_001025175.1:p.Leu127Met
NM_001258355.1:c.424C>A NP_001245284.1:p.Leu142Met
NM_001287182.1:c.370C>A NP_001274111.1:p.Leu124Met
NM_001287183.1:c.370C>A , LRG_483t3:c.370C>A NP_001274112.1:p.Leu124Met
NM_001287184.1:c.370C>A NP_001274113.1:p.Leu124Met
NM_175914.4:c.379C>A , LRG_483t1:c.379C>A NP_787110.2:p.Leu127Met
NM_178849.2:c.445C>A NP_849180.1:p.Leu149Met
NM_178850.2:c.445C>A NP_849181.1:p.Leu149Met
XM_005260407.2:c.562C>A XP_005260464.1:p.Leu188Met
XM_011528797.1:c.493C>A XP_011527099.1:p.Leu165Met
XM_011528798.1:c.493C>A XP_011527100.1:p.Leu165Met
XM_005260407.4:c.562C>A XP_005260464.1:p.Leu188Met
NM_001030003.3:c.379C>A NP_001025174.1:p.Leu127Met
NM_001030004.3:c.379C>A NP_001025175.1:p.Leu127Met
NM_001258355.2:c.424C>A NP_001245284.1:p.Leu142Met
NM_001287182.2:c.370C>A NP_001274111.1:p.Leu124Met
NM_001287184.2:c.370C>A NP_001274113.1:p.Leu124Met
NM_178849.3:c.445C>A NP_849180.1:p.Leu149Met
NM_178850.3:c.445C>A NP_849181.1:p.Leu149Met
NM_000457.5:c.445C>A NP_000448.3:p.Leu149Met
NM_000457.6:c.445C>A NP_000448.3:p.Leu149Met
NM_001287183.2:c.370C>A NP_001274112.1:p.Leu124Met
NM_175914.5:c.379C>A MANE Select NP_787110.2:p.Leu127Met
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