Canonical Allele Identifier: CA409105686
Gene: HNF4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.43042399T>G (hg19) chr20:g.44413759T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44413759T>G , CM000682.2:g.44413759T>G GRCh38
NC_000020.10:g.43042399T>G , CM000682.1:g.43042399T>G GRCh37
NC_000020.9:g.42475813T>G NCBI36
NG_009818.1:g.62959T>G , LRG_483:g.62959T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.385T>G MANE Select ENSP00000315180.4:p.Ser129Ala
ENST00000316099.10:c.451T>G ENSP00000312987.3:p.Ser151Ala
ENST00000619550.5:c.425T>G
ENST00000683148.1:n.427T>G
ENST00000683657.1:n.1575T>G
ENST00000316099.9:c.451T>G ENSP00000312987.3:p.Ser151Ala
ENST00000316099.8:c.451T>G ENSP00000312987.3:p.Ser151Ala
ENST00000316673.8:c.385T>G ENSP00000315180.4:p.Ser129Ala
ENST00000372920.1:c.*218T>G ENSP00000362011.1:n.*218T>G
ENST00000415691.2:c.451T>G ENSP00000412111.1:p.Ser151Ala
ENST00000443598.6:c.451T>G ENSP00000410911.2:p.Ser151Ala
ENST00000457232.5:c.385T>G ENSP00000396216.1:p.Ser129Ala
ENST00000609795.5:c.385T>G ENSP00000476609.1:p.Ser129Ala
ENST00000619550.4:c.376T>G ENSP00000481331.1:p.Ser126Ala
NM_000457.4:c.451T>G , LRG_483t2:c.451T>G NP_000448.3:p.Ser151Ala
NM_001030003.2:c.385T>G NP_001025174.1:p.Ser129Ala
NM_001030004.2:c.385T>G NP_001025175.1:p.Ser129Ala
NM_001258355.1:c.430T>G NP_001245284.1:p.Ser144Ala
NM_001287182.1:c.376T>G NP_001274111.1:p.Ser126Ala
NM_001287183.1:c.376T>G , LRG_483t3:c.376T>G NP_001274112.1:p.Ser126Ala
NM_001287184.1:c.376T>G NP_001274113.1:p.Ser126Ala
NM_175914.4:c.385T>G , LRG_483t1:c.385T>G NP_787110.2:p.Ser129Ala
NM_178849.2:c.451T>G NP_849180.1:p.Ser151Ala
NM_178850.2:c.451T>G NP_849181.1:p.Ser151Ala
XM_005260407.2:c.568T>G XP_005260464.1:p.Ser190Ala
XM_011528797.1:c.499T>G XP_011527099.1:p.Ser167Ala
XM_011528798.1:c.499T>G XP_011527100.1:p.Ser167Ala
XM_005260407.4:c.568T>G XP_005260464.1:p.Ser190Ala
NM_001030003.3:c.385T>G NP_001025174.1:p.Ser129Ala
NM_001030004.3:c.385T>G NP_001025175.1:p.Ser129Ala
NM_001258355.2:c.430T>G NP_001245284.1:p.Ser144Ala
NM_001287182.2:c.376T>G NP_001274111.1:p.Ser126Ala
NM_001287184.2:c.376T>G NP_001274113.1:p.Ser126Ala
NM_178849.3:c.451T>G NP_849180.1:p.Ser151Ala
NM_178850.3:c.451T>G NP_849181.1:p.Ser151Ala
NM_000457.5:c.451T>G NP_000448.3:p.Ser151Ala
NM_000457.6:c.451T>G NP_000448.3:p.Ser151Ala
NM_001287183.2:c.376T>G NP_001274112.1:p.Ser126Ala
NM_175914.5:c.385T>G MANE Select NP_787110.2:p.Ser129Ala
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