Canonical Allele Identifier: CA409109838
Community Standard Title: NM_175914.5(HNF4A):c.1A>T (p.Met1Leu)
Gene: HNF4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44355805A>T , CM000682.2:g.44355805A>T GRCh38
NC_000020.10:g.42984445A>T , CM000682.1:g.42984445A>T GRCh37
NC_000020.9:g.42417859A>T NCBI36
NG_009818.1:g.5005A>T , LRG_483:g.5005A>T

Transcript Alleles

HGVS Amino-acid Change
NM_175914.5:c.1A>T MANE Select NP_787110.2:p.Met1Leu
ENST00000316673.9:c.1A>T MANE Select ENSP00000315180.4:p.Met1Leu
NM_001030003.2:c.1A>T NP_001025174.1:p.Met1Leu
NM_001030003.3:c.1A>T NP_001025174.1:p.Met1Leu
NM_001030004.2:c.1A>T NP_001025175.1:p.Met1Leu
NM_001030004.3:c.1A>T NP_001025175.1:p.Met1Leu
NM_001287182.1:c.-231A>T NP_001274111.1:n.-231A>T
NM_001287182.2:c.-231A>T NP_001274111.1:n.-231A>T
NM_001287183.1:c.-231A>T , LRG_483t3:c.-231A>T NP_001274112.1:n.-231A>T
NM_001287183.2:c.-231A>T NP_001274112.1:n.-231A>T
NM_001287184.1:c.-231A>T NP_001274113.1:n.-231A>T
NM_001287184.2:c.-231A>T NP_001274113.1:n.-231A>T
NM_175914.4:c.1A>T , LRG_483t1:c.1A>T NP_787110.2:p.Met1Leu
ENST00000316673.8:c.1A>T ENSP00000315180.4:p.Met1Leu
ENST00000457232.5:c.1A>T ENSP00000396216.1:p.Met1Leu
ENST00000609262.5:c.-231A>T ENSP00000476310.1:n.-231A>T
ENST00000609795.5:c.1A>T ENSP00000476609.1:p.Met1Leu
ENST00000619550.4:c.-231A>T ENSP00000481331.1:n.-231A>T
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