Canonical Allele Identifier: CA510582625
Gene: HNF4A HGNC NCBI

Linked Data

dbSNP Id: rs370329321
gnomAD v2: 20-43042410-G-T
gnomAD v4: 20-44413770-G-T
MyVariant Identifiers: chr20:g.43042410G>T (hg19) chr20:g.44413770G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44413770G>T , CM000682.2:g.44413770G>T GRCh38
NC_000020.10:g.43042410G>T , CM000682.1:g.43042410G>T GRCh37
NC_000020.9:g.42475824G>T NCBI36
NG_009818.1:g.62970G>T , LRG_483:g.62970G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.396G>T MANE Select ENSP00000315180.4:p.Ala132=
ENST00000316099.10:c.462G>T ENSP00000312987.3:p.Ala154=
ENST00000619550.5:c.436G>T
ENST00000683148.1:n.438G>T
ENST00000683657.1:n.1586G>T
ENST00000316099.9:c.462G>T ENSP00000312987.3:p.Ala154=
ENST00000316099.8:c.462G>T ENSP00000312987.3:p.Ala154=
ENST00000316673.8:c.396G>T ENSP00000315180.4:p.Ala132=
ENST00000372920.1:c.*229G>T ENSP00000362011.1:n.*229G>T
ENST00000415691.2:c.462G>T ENSP00000412111.1:p.Ala154=
ENST00000443598.6:c.462G>T ENSP00000410911.2:p.Ala154=
ENST00000457232.5:c.396G>T ENSP00000396216.1:p.Ala132=
ENST00000609795.5:c.396G>T ENSP00000476609.1:p.Ala132=
ENST00000619550.4:c.387G>T ENSP00000481331.1:p.Ala129=
NM_000457.4:c.462G>T , LRG_483t2:c.462G>T NP_000448.3:p.Ala154=
NM_001030003.2:c.396G>T NP_001025174.1:p.Ala132=
NM_001030004.2:c.396G>T NP_001025175.1:p.Ala132=
NM_001258355.1:c.441G>T NP_001245284.1:p.Ala147=
NM_001287182.1:c.387G>T NP_001274111.1:p.Ala129=
NM_001287183.1:c.387G>T , LRG_483t3:c.387G>T NP_001274112.1:p.Ala129=
NM_001287184.1:c.387G>T NP_001274113.1:p.Ala129=
NM_175914.4:c.396G>T , LRG_483t1:c.396G>T NP_787110.2:p.Ala132=
NM_178849.2:c.462G>T NP_849180.1:p.Ala154=
NM_178850.2:c.462G>T NP_849181.1:p.Ala154=
XM_005260407.2:c.579G>T XP_005260464.1:p.Ala193=
XM_011528797.1:c.510G>T XP_011527099.1:p.Ala170=
XM_011528798.1:c.510G>T XP_011527100.1:p.Ala170=
XM_005260407.4:c.579G>T XP_005260464.1:p.Ala193=
NM_001030003.3:c.396G>T NP_001025174.1:p.Ala132=
NM_001030004.3:c.396G>T NP_001025175.1:p.Ala132=
NM_001258355.2:c.441G>T NP_001245284.1:p.Ala147=
NM_001287182.2:c.387G>T NP_001274111.1:p.Ala129=
NM_001287184.2:c.387G>T NP_001274113.1:p.Ala129=
NM_178849.3:c.462G>T NP_849180.1:p.Ala154=
NM_178850.3:c.462G>T NP_849181.1:p.Ala154=
NM_000457.5:c.462G>T NP_000448.3:p.Ala154=
NM_000457.6:c.462G>T NP_000448.3:p.Ala154=
NM_001287183.2:c.387G>T NP_001274112.1:p.Ala129=
NM_175914.5:c.396G>T MANE Select NP_787110.2:p.Ala132=
Search 100 bp 5'
Search 100 bp 3'