Canonical Allele Identifier: CA409109839
Gene: HNF4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.42984446T>A (hg19) chr20:g.44355806T>A (hg38)
ERepo: CA409109839/MONDO:0015967/085
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44355806T>A , CM000682.2:g.44355806T>A GRCh38
NC_000020.10:g.42984446T>A , CM000682.1:g.42984446T>A GRCh37
NC_000020.9:g.42417860T>A NCBI36
NG_009818.1:g.5006T>A , LRG_483:g.5006T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.2T>A MANE Select ENSP00000315180.4:p.Met1Lys
ENST00000316673.8:c.2T>A ENSP00000315180.4:p.Met1Lys
ENST00000457232.5:c.2T>A ENSP00000396216.1:p.Met1Lys
ENST00000609262.5:c.-230T>A ENSP00000476310.1:n.-230T>A
ENST00000609795.5:c.2T>A ENSP00000476609.1:p.Met1Lys
ENST00000619550.4:c.-230T>A ENSP00000481331.1:n.-230T>A
NM_001030003.2:c.2T>A NP_001025174.1:p.Met1Lys
NM_001030004.2:c.2T>A NP_001025175.1:p.Met1Lys
NM_001287182.1:c.-230T>A NP_001274111.1:n.-230T>A
NM_001287183.1:c.-230T>A , LRG_483t3:c.-230T>A NP_001274112.1:n.-230T>A
NM_001287184.1:c.-230T>A NP_001274113.1:n.-230T>A
NM_175914.4:c.2T>A , LRG_483t1:c.2T>A NP_787110.2:p.Met1Lys
NM_001030003.3:c.2T>A NP_001025174.1:p.Met1Lys
NM_001030004.3:c.2T>A NP_001025175.1:p.Met1Lys
NM_001287182.2:c.-230T>A NP_001274111.1:n.-230T>A
NM_001287184.2:c.-230T>A NP_001274113.1:n.-230T>A
NM_001287183.2:c.-230T>A NP_001274112.1:n.-230T>A
NM_175914.5:c.2T>A MANE Select NP_787110.2:p.Met1Lys
Search 100 bp 5'
Search 100 bp 3'