Canonical Allele Identifier: CA409105694
Gene: HNF4A HGNC NCBI

Linked Data

COSMIC: COSM443869 COSM443870 COSM1483662
MyVariant Identifiers: chr20:g.43042402A>T (hg19) chr20:g.44413762A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44413762A>T , CM000682.2:g.44413762A>T GRCh38
NC_000020.10:g.43042402A>T , CM000682.1:g.43042402A>T GRCh37
NC_000020.9:g.42475816A>T NCBI36
NG_009818.1:g.62962A>T , LRG_483:g.62962A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.388A>T MANE Select ENSP00000315180.4:p.Ile130Phe
ENST00000316099.10:c.454A>T ENSP00000312987.3:p.Ile152Phe
ENST00000619550.5:c.428A>T
ENST00000683148.1:n.430A>T
ENST00000683657.1:n.1578A>T
ENST00000316099.9:c.454A>T ENSP00000312987.3:p.Ile152Phe
ENST00000316099.8:c.454A>T ENSP00000312987.3:p.Ile152Phe
ENST00000316673.8:c.388A>T ENSP00000315180.4:p.Ile130Phe
ENST00000372920.1:c.*221A>T ENSP00000362011.1:n.*221A>T
ENST00000415691.2:c.454A>T ENSP00000412111.1:p.Ile152Phe
ENST00000443598.6:c.454A>T ENSP00000410911.2:p.Ile152Phe
ENST00000457232.5:c.388A>T ENSP00000396216.1:p.Ile130Phe
ENST00000609795.5:c.388A>T ENSP00000476609.1:p.Ile130Phe
ENST00000619550.4:c.379A>T ENSP00000481331.1:p.Ile127Phe
NM_000457.4:c.454A>T , LRG_483t2:c.454A>T NP_000448.3:p.Ile152Phe
NM_001030003.2:c.388A>T NP_001025174.1:p.Ile130Phe
NM_001030004.2:c.388A>T NP_001025175.1:p.Ile130Phe
NM_001258355.1:c.433A>T NP_001245284.1:p.Ile145Phe
NM_001287182.1:c.379A>T NP_001274111.1:p.Ile127Phe
NM_001287183.1:c.379A>T , LRG_483t3:c.379A>T NP_001274112.1:p.Ile127Phe
NM_001287184.1:c.379A>T NP_001274113.1:p.Ile127Phe
NM_175914.4:c.388A>T , LRG_483t1:c.388A>T NP_787110.2:p.Ile130Phe
NM_178849.2:c.454A>T NP_849180.1:p.Ile152Phe
NM_178850.2:c.454A>T NP_849181.1:p.Ile152Phe
XM_005260407.2:c.571A>T XP_005260464.1:p.Ile191Phe
XM_011528797.1:c.502A>T XP_011527099.1:p.Ile168Phe
XM_011528798.1:c.502A>T XP_011527100.1:p.Ile168Phe
XM_005260407.4:c.571A>T XP_005260464.1:p.Ile191Phe
NM_001030003.3:c.388A>T NP_001025174.1:p.Ile130Phe
NM_001030004.3:c.388A>T NP_001025175.1:p.Ile130Phe
NM_001258355.2:c.433A>T NP_001245284.1:p.Ile145Phe
NM_001287182.2:c.379A>T NP_001274111.1:p.Ile127Phe
NM_001287184.2:c.379A>T NP_001274113.1:p.Ile127Phe
NM_178849.3:c.454A>T NP_849180.1:p.Ile152Phe
NM_178850.3:c.454A>T NP_849181.1:p.Ile152Phe
NM_000457.5:c.454A>T NP_000448.3:p.Ile152Phe
NM_000457.6:c.454A>T NP_000448.3:p.Ile152Phe
NM_001287183.2:c.379A>T NP_001274112.1:p.Ile127Phe
NM_175914.5:c.388A>T MANE Select NP_787110.2:p.Ile130Phe
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