Canonical Allele Identifier: CA409107415

Gene: HNF4A

Linked Data

• dbSNP Id: rs1028937748
• gnomAD v3: 20-44419767-G-T
• gnomAD v4: 20-44419767-G-T
• MyVariant Identifiers: chr20:g.43048407G>T (hg19) ; chr20:g.44419767G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44419767G>T , CM000682.2:g.44419767G>T	GRCh38
NC_000020.10:g.43048407G>T , CM000682.1:g.43048407G>T	GRCh37
NC_000020.9:g.42481821G>T	NCBI36
NG_009818.1:g.68967G>T , LRG_483:g.68967G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316673.9:c.717G>T MANE Select	ENSP00000315180.4:p.Met239Ile
ENST00000316099.10:c.783G>T	ENSP00000312987.3:p.Met261Ile
ENST00000619550.5:c.757G>T
ENST00000683148.1:n.759G>T
ENST00000683657.1:n.1907G>T
ENST00000316099.9:c.783G>T	ENSP00000312987.3:p.Met261Ile
ENST00000316099.8:c.783G>T	ENSP00000312987.3:p.Met261Ile
ENST00000316673.8:c.717G>T	ENSP00000315180.4:p.Met239Ile
ENST00000372920.1:c.*550G>T	ENSP00000362011.1:n.*550G>T
ENST00000415691.2:c.783G>T	ENSP00000412111.1:p.Met261Ile
ENST00000443598.6:c.783G>T	ENSP00000410911.2:p.Met261Ile
ENST00000457232.5:c.717G>T	ENSP00000396216.1:p.Met239Ile
ENST00000609795.5:c.717G>T	ENSP00000476609.1:p.Met239Ile
ENST00000619550.4:c.708G>T	ENSP00000481331.1:p.Met236Ile
NM_000457.4:c.783G>T , LRG_483t2:c.783G>T	NP_000448.3:p.Met261Ile
NM_001030003.2:c.717G>T	NP_001025174.1:p.Met239Ile
NM_001030004.2:c.717G>T	NP_001025175.1:p.Met239Ile
NM_001258355.1:c.762G>T	NP_001245284.1:p.Met254Ile
NM_001287182.1:c.708G>T	NP_001274111.1:p.Met236Ile
NM_001287183.1:c.708G>T , LRG_483t3:c.708G>T	NP_001274112.1:p.Met236Ile
NM_001287184.1:c.708G>T	NP_001274113.1:p.Met236Ile
NM_175914.4:c.717G>T , LRG_483t1:c.717G>T	NP_787110.2:p.Met239Ile
NM_178849.2:c.783G>T	NP_849180.1:p.Met261Ile
NM_178850.2:c.783G>T	NP_849181.1:p.Met261Ile
XM_005260407.2:c.900G>T	XP_005260464.1:p.Met300Ile
XM_011528797.1:c.831G>T	XP_011527099.1:p.Met277Ile
XM_011528798.1:c.831G>T	XP_011527100.1:p.Met277Ile
XM_005260407.4:c.900G>T	XP_005260464.1:p.Met300Ile
NM_001030003.3:c.717G>T	NP_001025174.1:p.Met239Ile
NM_001030004.3:c.717G>T	NP_001025175.1:p.Met239Ile
NM_001258355.2:c.762G>T	NP_001245284.1:p.Met254Ile
NM_001287182.2:c.708G>T	NP_001274111.1:p.Met236Ile
NM_001287184.2:c.708G>T	NP_001274113.1:p.Met236Ile
NM_178849.3:c.783G>T	NP_849180.1:p.Met261Ile
NM_178850.3:c.783G>T	NP_849181.1:p.Met261Ile
NM_000457.5:c.783G>T	NP_000448.3:p.Met261Ile
NM_000457.6:c.783G>T	NP_000448.3:p.Met261Ile
NM_001287183.2:c.708G>T	NP_001274112.1:p.Met236Ile
NM_175914.5:c.717G>T MANE Select	NP_787110.2:p.Met239Ile