Canonical Allele Identifier: CA315421060

Gene: HNF4A

Linked Data

• dbSNP Id: rs996089363
• gnomAD v3: 20-44429858-T-C
• gnomAD v4: 20-44429858-T-C
• MyVariant Identifiers: chr20:g.43058498T>C (hg19) ; chr20:g.44429858T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44429858T>C , CM000682.2:g.44429858T>C	GRCh38
NC_000020.10:g.43058498T>C , CM000682.1:g.43058498T>C	GRCh37
NC_000020.9:g.42491912T>C	NCBI36
NG_009818.1:g.79058T>C , LRG_483:g.79058T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000316673.9:c.*193T>C MANE Select	ENSP00000315180.4:n.*193T>C
ENST00000316099.10:c.*193T>C	ENSP00000312987.3:n.*193T>C
ENST00000316099.9:c.*193T>C	ENSP00000312987.3:n.*193T>C
ENST00000316099.8:c.*193T>C	ENSP00000312987.3:n.*193T>C
ENST00000372920.1:c.*1385T>C	ENSP00000362011.1:n.*1385T>C
ENST00000415691.2:c.*193T>C	ENSP00000412111.1:n.*193T>C
ENST00000619550.4:c.*193T>C	ENSP00000481331.1:n.*193T>C
NM_000457.4:c.*193T>C , LRG_483t2:c.*193T>C	NP_000448.3:n.*193T>C
NM_001030003.2:c.*193T>C	NP_001025174.1:n.*193T>C
NM_001258355.1:c.*193T>C	NP_001245284.1:n.*193T>C
NM_001287182.1:c.*193T>C	NP_001274111.1:n.*193T>C
NM_001287183.1:c.*193T>C , LRG_483t3:c.*193T>C	NP_001274112.1:n.*193T>C
NM_175914.4:c.*193T>C , LRG_483t1:c.*193T>C	NP_787110.2:n.*193T>C
NM_178849.2:c.*193T>C	NP_849180.1:n.*193T>C
XM_005260407.2:c.*193T>C	XP_005260464.1:n.*193T>C
XM_011528797.1:c.*193T>C	XP_011527099.1:n.*193T>C
XM_011528798.1:c.*193T>C	XP_011527100.1:n.*193T>C
XM_005260407.4:c.*193T>C	XP_005260464.1:n.*193T>C
NM_001030003.3:c.*193T>C	NP_001025174.1:n.*193T>C
NM_001258355.2:c.*193T>C	NP_001245284.1:n.*193T>C
NM_001287182.2:c.*193T>C	NP_001274111.1:n.*193T>C
NM_178849.3:c.*193T>C	NP_849180.1:n.*193T>C
NM_000457.5:c.*193T>C	NP_000448.3:n.*193T>C
NM_000457.6:c.*193T>C	NP_000448.3:n.*193T>C
NM_001287183.2:c.*193T>C	NP_001274112.1:n.*193T>C
NM_175914.5:c.*193T>C MANE Select	NP_787110.2:n.*193T>C