Canonical Allele Identifier: CA9870529
Community Standard Title: NM_175914.5(HNF4A):c.1293C>T (p.Val431=)
Gene: HNF4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44429599C>T , CM000682.2:g.44429599C>T GRCh38
NC_000020.10:g.43058239C>T , CM000682.1:g.43058239C>T GRCh37
NC_000020.9:g.42491653C>T NCBI36
NG_009818.1:g.78799C>T , LRG_483:g.78799C>T

Transcript Alleles

HGVS Amino-acid Change
NM_175914.5:c.1293C>T MANE Select NP_787110.2:p.Val431=
ENST00000316673.9:c.1293C>T MANE Select ENSP00000315180.4:p.Val431=
NM_000457.4:c.1359C>T , LRG_483t2:c.1359C>T NP_000448.3:p.Val453=
NM_000457.5:c.1359C>T NP_000448.3:p.Val453=
NM_000457.6:c.1359C>T NP_000448.3:p.Val453=
NM_001030003.2:c.1263C>T NP_001025174.1:p.Val421=
NM_001030003.3:c.1263C>T NP_001025174.1:p.Val421=
NM_001258355.1:c.1338C>T NP_001245284.1:p.Val446=
NM_001258355.2:c.1338C>T NP_001245284.1:p.Val446=
NM_001287182.1:c.1254C>T NP_001274111.1:p.Val418=
NM_001287182.2:c.1254C>T NP_001274111.1:p.Val418=
NM_001287183.1:c.1284C>T , LRG_483t3:c.1284C>T NP_001274112.1:p.Val428=
NM_001287183.2:c.1284C>T NP_001274112.1:p.Val428=
NM_175914.4:c.1293C>T , LRG_483t1:c.1293C>T NP_787110.2:p.Val431=
NM_178849.2:c.1329C>T NP_849180.1:p.Val443=
NM_178849.3:c.1329C>T NP_849180.1:p.Val443=
ENST00000316099.10:c.1359C>T ENSP00000312987.3:p.Val453=
ENST00000316099.8:c.1359C>T ENSP00000312987.3:p.Val453=
ENST00000316099.9:c.1359C>T ENSP00000312987.3:p.Val453=
ENST00000316673.8:c.1293C>T ENSP00000315180.4:p.Val431=
ENST00000372920.1:c.*1126C>T ENSP00000362011.1:n.*1126C>T
ENST00000415691.2:c.1329C>T ENSP00000412111.1:p.Val443=
ENST00000457232.5:c.1263C>T ENSP00000396216.1:p.Val421=
ENST00000619550.4:c.1284C>T ENSP00000481331.1:p.Val428=
XM_005260407.2:c.1476C>T XP_005260464.1:p.Val492=
XM_005260407.4:c.1476C>T XP_005260464.1:p.Val492=
XM_011528797.1:c.1377C>T XP_011527099.1:p.Val459=
XM_011528798.1:c.1407C>T XP_011527100.1:p.Val469=