Canonical Allele Identifier: CA510582630
Gene: HNF4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.43042416G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44413776G>C , CM000682.2:g.44413776G>C GRCh38
NC_000020.10:g.43042416G>C , CM000682.1:g.43042416G>C GRCh37
NC_000020.9:g.42475830G>C NCBI36
NG_009818.1:g.62976G>C , LRG_483:g.62976G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.402G>C MANE Select ENSP00000315180.4:p.Leu134=
ENST00000316099.10:c.468G>C ENSP00000312987.3:p.Leu156=
ENST00000619550.5:c.442G>C
ENST00000683148.1:n.444G>C
ENST00000683657.1:n.1592G>C
ENST00000316099.9:c.468G>C ENSP00000312987.3:p.Leu156=
ENST00000316099.8:c.468G>C ENSP00000312987.3:p.Leu156=
ENST00000316673.8:c.402G>C ENSP00000315180.4:p.Leu134=
ENST00000372920.1:c.*235G>C ENSP00000362011.1:n.*235G>C
ENST00000415691.2:c.468G>C ENSP00000412111.1:p.Leu156=
ENST00000443598.6:c.468G>C ENSP00000410911.2:p.Leu156=
ENST00000457232.5:c.402G>C ENSP00000396216.1:p.Leu134=
ENST00000609795.5:c.402G>C ENSP00000476609.1:p.Leu134=
ENST00000619550.4:c.393G>C ENSP00000481331.1:p.Leu131=
NM_000457.4:c.468G>C , LRG_483t2:c.468G>C NP_000448.3:p.Leu156=
NM_001030003.2:c.402G>C NP_001025174.1:p.Leu134=
NM_001030004.2:c.402G>C NP_001025175.1:p.Leu134=
NM_001258355.1:c.447G>C NP_001245284.1:p.Leu149=
NM_001287182.1:c.393G>C NP_001274111.1:p.Leu131=
NM_001287183.1:c.393G>C , LRG_483t3:c.393G>C NP_001274112.1:p.Leu131=
NM_001287184.1:c.393G>C NP_001274113.1:p.Leu131=
NM_175914.4:c.402G>C , LRG_483t1:c.402G>C NP_787110.2:p.Leu134=
NM_178849.2:c.468G>C NP_849180.1:p.Leu156=
NM_178850.2:c.468G>C NP_849181.1:p.Leu156=
XM_005260407.2:c.585G>C XP_005260464.1:p.Leu195=
XM_011528797.1:c.516G>C XP_011527099.1:p.Leu172=
XM_011528798.1:c.516G>C XP_011527100.1:p.Leu172=
XM_005260407.4:c.585G>C XP_005260464.1:p.Leu195=
NM_001030003.3:c.402G>C NP_001025174.1:p.Leu134=
NM_001030004.3:c.402G>C NP_001025175.1:p.Leu134=
NM_001258355.2:c.447G>C NP_001245284.1:p.Leu149=
NM_001287182.2:c.393G>C NP_001274111.1:p.Leu131=
NM_001287184.2:c.393G>C NP_001274113.1:p.Leu131=
NM_178849.3:c.468G>C NP_849180.1:p.Leu156=
NM_178850.3:c.468G>C NP_849181.1:p.Leu156=
NM_000457.5:c.468G>C NP_000448.3:p.Leu156=
NM_000457.6:c.468G>C NP_000448.3:p.Leu156=
NM_001287183.2:c.393G>C NP_001274112.1:p.Leu131=
NM_175914.5:c.402G>C MANE Select NP_787110.2:p.Leu134=
Search 100 bp 5'
Search 100 bp 3'