Canonical Allele Identifier: CA2067678448
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993674G= , CM000674.2:g.120993674G= GRCh38
NC_000012.11:g.121431477G= , CM000674.1:g.121431477G= GRCh37
NC_000012.10:g.119915860G= NCBI36
NG_011731.2:g.19929G= , LRG_522:g.19929G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.681G= ENSP00000453965.2:p.Glu227=
ENST00000257555.11:c.681G= MANE Select ENSP00000257555.5:p.Glu227=
ENST00000257555.10:c.681G= ENSP00000257555.4:p.Glu227=
ENST00000400024.6:c.681G= ENSP00000476181.1:p.Glu227=
ENST00000402929.5:n.816G=
ENST00000535955.5:n.43-3817G=
ENST00000538626.2:n.191-3817G=
ENST00000538646.5:c.527-490G= ENSP00000443964.1:n.527-490G=
ENST00000540108.1:c.*121G= ENSP00000445445.1:n.*121G=
ENST00000541395.5:c.681G= ENSP00000443112.1:p.Glu227=
ENST00000541924.5:c.681G= ENSP00000440361.1:p.Glu227=
ENST00000543427.5:c.633+48G= ENSP00000439721.2:n.633+48G=
ENST00000544413.2:c.681G= ENSP00000438804.1:p.Glu227=
ENST00000544574.5:c.73-2943G= ENSP00000438565.1:n.73-2943G=
ENST00000560968.5:c.824G=
ENST00000615446.4:c.-257-2588G= ENSP00000483994.1:n.-257-2588G=
ENST00000617366.4:c.586+95G= ENSP00000481967.1:n.586+95G=
NM_000545.5:c.681G= , LRG_522t1:c.681G= NP_000536.5:p.Glu227=
NM_000545.6:c.681G= NP_000536.5:p.Glu227=
NM_001306179.1:c.681G= NP_001293108.1:p.Glu227=
XM_005253931.2:c.681G= XP_005253988.1:p.Glu227=
XM_024449168.1:c.681G= XP_024304936.1:p.Glu227=
NM_000545.8:c.681G= MANE Select NP_000536.6:p.Glu227=
NM_001306179.2:c.681G= NP_001293108.2:p.Glu227=