Canonical Allele Identifier: CA409105521
Gene: HNF4A HGNC NCBI

Linked Data

gnomAD v4: 20-44413729-A-T
MyVariant Identifiers: chr20:g.43042369A>T (hg19) chr20:g.44413729A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44413729A>T , CM000682.2:g.44413729A>T GRCh38
NC_000020.10:g.43042369A>T , CM000682.1:g.43042369A>T GRCh37
NC_000020.9:g.42475783A>T NCBI36
NG_009818.1:g.62929A>T , LRG_483:g.62929A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.355A>T MANE Select ENSP00000315180.4:p.Arg119Trp
ENST00000316099.10:c.421A>T ENSP00000312987.3:p.Arg141Trp
ENST00000619550.5:c.395A>T
ENST00000683148.1:n.397A>T
ENST00000683657.1:n.1545A>T
ENST00000316099.9:c.421A>T ENSP00000312987.3:p.Arg141Trp
ENST00000316099.8:c.421A>T ENSP00000312987.3:p.Arg141Trp
ENST00000316673.8:c.355A>T ENSP00000315180.4:p.Arg119Trp
ENST00000372920.1:c.*188A>T ENSP00000362011.1:n.*188A>T
ENST00000415691.2:c.421A>T ENSP00000412111.1:p.Arg141Trp
ENST00000443598.6:c.421A>T ENSP00000410911.2:p.Arg141Trp
ENST00000457232.5:c.355A>T ENSP00000396216.1:p.Arg119Trp
ENST00000609795.5:c.355A>T ENSP00000476609.1:p.Arg119Trp
ENST00000619550.4:c.346A>T ENSP00000481331.1:p.Arg116Trp
NM_000457.4:c.421A>T , LRG_483t2:c.421A>T NP_000448.3:p.Arg141Trp
NM_001030003.2:c.355A>T NP_001025174.1:p.Arg119Trp
NM_001030004.2:c.355A>T NP_001025175.1:p.Arg119Trp
NM_001258355.1:c.400A>T NP_001245284.1:p.Arg134Trp
NM_001287182.1:c.346A>T NP_001274111.1:p.Arg116Trp
NM_001287183.1:c.346A>T , LRG_483t3:c.346A>T NP_001274112.1:p.Arg116Trp
NM_001287184.1:c.346A>T NP_001274113.1:p.Arg116Trp
NM_175914.4:c.355A>T , LRG_483t1:c.355A>T NP_787110.2:p.Arg119Trp
NM_178849.2:c.421A>T NP_849180.1:p.Arg141Trp
NM_178850.2:c.421A>T NP_849181.1:p.Arg141Trp
XM_005260407.2:c.538A>T XP_005260464.1:p.Arg180Trp
XM_011528797.1:c.469A>T XP_011527099.1:p.Arg157Trp
XM_011528798.1:c.469A>T XP_011527100.1:p.Arg157Trp
XM_005260407.4:c.538A>T XP_005260464.1:p.Arg180Trp
NM_001030003.3:c.355A>T NP_001025174.1:p.Arg119Trp
NM_001030004.3:c.355A>T NP_001025175.1:p.Arg119Trp
NM_001258355.2:c.400A>T NP_001245284.1:p.Arg134Trp
NM_001287182.2:c.346A>T NP_001274111.1:p.Arg116Trp
NM_001287184.2:c.346A>T NP_001274113.1:p.Arg116Trp
NM_178849.3:c.421A>T NP_849180.1:p.Arg141Trp
NM_178850.3:c.421A>T NP_849181.1:p.Arg141Trp
NM_000457.5:c.421A>T NP_000448.3:p.Arg141Trp
NM_000457.6:c.421A>T NP_000448.3:p.Arg141Trp
NM_001287183.2:c.346A>T NP_001274112.1:p.Arg116Trp
NM_175914.5:c.355A>T MANE Select NP_787110.2:p.Arg119Trp
Search 100 bp 5'
Search 100 bp 3'