Canonical Allele Identifier: CA2067686022
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997590C= , CM000674.2:g.120997590C= GRCh38
NC_000012.11:g.121435393C= , CM000674.1:g.121435393C= GRCh37
NC_000012.10:g.119919776C= NCBI36
NG_011731.2:g.23845C= , LRG_522:g.23845C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*173C= ENSP00000453965.2:n.*173C=
ENST00000257555.11:c.1426C= MANE Select ENSP00000257555.5:p.Leu476=
ENST00000257555.10:c.1426C= ENSP00000257555.4:p.Leu476=
ENST00000400024.6:c.1426C= ENSP00000476181.1:p.Leu476=
ENST00000402929.5:n.2292C=
ENST00000535955.5:n.142C=
ENST00000538626.2:n.290C=
ENST00000538646.5:c.*402C= ENSP00000443964.1:n.*402C=
ENST00000540108.1:c.*866C= ENSP00000445445.1:n.*866C=
ENST00000541395.5:c.1426C= ENSP00000443112.1:p.Leu476=
ENST00000541924.5:c.*440C= ENSP00000440361.1:n.*440C=
ENST00000543255.1:n.470C=
ENST00000543427.5:c.889C= ENSP00000439721.2:p.Leu297=
ENST00000544413.2:c.1426C= ENSP00000438804.1:p.Leu476=
ENST00000544574.5:c.*189C= ENSP00000438565.1:n.*189C=
ENST00000560968.5:c.1243C=
ENST00000615446.4:c.214C= ENSP00000483994.1:p.Leu72=
ENST00000617366.4:c.587-44C= ENSP00000481967.1:n.587-44C=
NM_000545.5:c.1426C= , LRG_522t1:c.1426C= NP_000536.5:p.Leu476=
NM_000545.6:c.1426C= NP_000536.5:p.Leu476=
NM_001306179.1:c.1426C= NP_001293108.1:p.Leu476=
XM_005253931.2:c.1426C= XP_005253988.1:p.Leu476=
XM_024449168.1:c.1426C= XP_024304936.1:p.Leu476=
NM_000545.8:c.1426C= MANE Select NP_000536.6:p.Leu476=
NM_001306179.2:c.1426C= NP_001293108.2:p.Leu476=