Canonical Allele Identifier: CA10643882
Gene: HNF4A HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.44429832T>A
GRCh37 chr20:g.43058472T>A
gnomAD v2:
20:43058472 T / A
gnomAD v3:
20:44429832 T / A
gnomAD v4:
chr20-44429832-T-A
Joint Max Group AF 0.03388191 (AFR)
Genomes Max Group AF 0.03317457 (AFR)
Exomes Max Group AF 0.03410002 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44429832T>A , CM000682.2:g.44429832T>A GRCh38
NC_000020.10:g.43058472T>A , CM000682.1:g.43058472T>A GRCh37
NC_000020.9:g.42491886T>A NCBI36
NG_009818.1:g.79032T>A , LRG_483:g.79032T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.*167T>A MANE Select ENSP00000315180.4:n.*167T>A
ENST00000316099.10:c.*167T>A ENSP00000312987.3:n.*167T>A
ENST00000316099.9:c.*167T>A ENSP00000312987.3:n.*167T>A
ENST00000316099.8:c.*167T>A ENSP00000312987.3:n.*167T>A
ENST00000372920.1:c.*1359T>A ENSP00000362011.1:n.*1359T>A
ENST00000415691.2:c.*167T>A ENSP00000412111.1:n.*167T>A
ENST00000619550.4:c.*167T>A ENSP00000481331.1:n.*167T>A
NM_000457.4:c.*167T>A , LRG_483t2:c.*167T>A NP_000448.3:n.*167T>A
NM_001030003.2:c.*167T>A NP_001025174.1:n.*167T>A
NM_001258355.1:c.*167T>A NP_001245284.1:n.*167T>A
NM_001287182.1:c.*167T>A NP_001274111.1:n.*167T>A
NM_001287183.1:c.*167T>A , LRG_483t3:c.*167T>A NP_001274112.1:n.*167T>A
NM_175914.4:c.*167T>A , LRG_483t1:c.*167T>A NP_787110.2:n.*167T>A
NM_178849.2:c.*167T>A NP_849180.1:n.*167T>A
XM_005260407.2:c.*167T>A XP_005260464.1:n.*167T>A
XM_011528797.1:c.*167T>A XP_011527099.1:n.*167T>A
XM_011528798.1:c.*167T>A XP_011527100.1:n.*167T>A
XM_005260407.4:c.*167T>A XP_005260464.1:n.*167T>A
NM_001030003.3:c.*167T>A NP_001025174.1:n.*167T>A
NM_001258355.2:c.*167T>A NP_001245284.1:n.*167T>A
NM_001287182.2:c.*167T>A NP_001274111.1:n.*167T>A
NM_178849.3:c.*167T>A NP_849180.1:n.*167T>A
NM_000457.5:c.*167T>A NP_000448.3:n.*167T>A
NM_000457.6:c.*167T>A NP_000448.3:n.*167T>A
NM_001287183.2:c.*167T>A NP_001274112.1:n.*167T>A
NM_175914.5:c.*167T>A MANE Select NP_787110.2:n.*167T>A
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