Canonical Allele Identifier: CA409105476
Gene: HNF4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.43042358T>C (hg19) chr20:g.44413718T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44413718T>C , CM000682.2:g.44413718T>C GRCh38
NC_000020.10:g.43042358T>C , CM000682.1:g.43042358T>C GRCh37
NC_000020.9:g.42475772T>C NCBI36
NG_009818.1:g.62918T>C , LRG_483:g.62918T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.344T>C MANE Select ENSP00000315180.4:p.Ile115Thr
ENST00000316099.10:c.410T>C ENSP00000312987.3:p.Ile137Thr
ENST00000619550.5:c.384T>C
ENST00000683148.1:n.386T>C
ENST00000683657.1:n.1534T>C
ENST00000316099.9:c.410T>C ENSP00000312987.3:p.Ile137Thr
ENST00000316099.8:c.410T>C ENSP00000312987.3:p.Ile137Thr
ENST00000316673.8:c.344T>C ENSP00000315180.4:p.Ile115Thr
ENST00000372920.1:c.*177T>C ENSP00000362011.1:n.*177T>C
ENST00000415691.2:c.410T>C ENSP00000412111.1:p.Ile137Thr
ENST00000443598.6:c.410T>C ENSP00000410911.2:p.Ile137Thr
ENST00000457232.5:c.344T>C ENSP00000396216.1:p.Ile115Thr
ENST00000609795.5:c.344T>C ENSP00000476609.1:p.Ile115Thr
ENST00000619550.4:c.335T>C ENSP00000481331.1:p.Ile112Thr
NM_000457.4:c.410T>C , LRG_483t2:c.410T>C NP_000448.3:p.Ile137Thr
NM_001030003.2:c.344T>C NP_001025174.1:p.Ile115Thr
NM_001030004.2:c.344T>C NP_001025175.1:p.Ile115Thr
NM_001258355.1:c.389T>C NP_001245284.1:p.Ile130Thr
NM_001287182.1:c.335T>C NP_001274111.1:p.Ile112Thr
NM_001287183.1:c.335T>C , LRG_483t3:c.335T>C NP_001274112.1:p.Ile112Thr
NM_001287184.1:c.335T>C NP_001274113.1:p.Ile112Thr
NM_175914.4:c.344T>C , LRG_483t1:c.344T>C NP_787110.2:p.Ile115Thr
NM_178849.2:c.410T>C NP_849180.1:p.Ile137Thr
NM_178850.2:c.410T>C NP_849181.1:p.Ile137Thr
XM_005260407.2:c.527T>C XP_005260464.1:p.Ile176Thr
XM_011528797.1:c.458T>C XP_011527099.1:p.Ile153Thr
XM_011528798.1:c.458T>C XP_011527100.1:p.Ile153Thr
XM_005260407.4:c.527T>C XP_005260464.1:p.Ile176Thr
NM_001030003.3:c.344T>C NP_001025174.1:p.Ile115Thr
NM_001030004.3:c.344T>C NP_001025175.1:p.Ile115Thr
NM_001258355.2:c.389T>C NP_001245284.1:p.Ile130Thr
NM_001287182.2:c.335T>C NP_001274111.1:p.Ile112Thr
NM_001287184.2:c.335T>C NP_001274113.1:p.Ile112Thr
NM_178849.3:c.410T>C NP_849180.1:p.Ile137Thr
NM_178850.3:c.410T>C NP_849181.1:p.Ile137Thr
NM_000457.5:c.410T>C NP_000448.3:p.Ile137Thr
NM_000457.6:c.410T>C NP_000448.3:p.Ile137Thr
NM_001287183.2:c.335T>C NP_001274112.1:p.Ile112Thr
NM_175914.5:c.344T>C MANE Select NP_787110.2:p.Ile115Thr
Search 100 bp 5'
Search 100 bp 3'