Canonical Allele Identifier: CA2067685673
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997504C= , CM000674.2:g.120997504C= GRCh38
NC_000012.11:g.121435307C= , CM000674.1:g.121435307C= GRCh37
NC_000012.10:g.119919690C= NCBI36
NG_011731.2:g.23759C= , LRG_522:g.23759C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*87C= ENSP00000453965.2:n.*87C=
ENST00000257555.11:c.1340C= MANE Select ENSP00000257555.5:p.Pro447=
ENST00000257555.10:c.1340C= ENSP00000257555.4:p.Pro447=
ENST00000400024.6:c.1340C= ENSP00000476181.1:p.Pro447=
ENST00000402929.5:n.2206C=
ENST00000535955.5:n.56C=
ENST00000538626.2:n.204C=
ENST00000538646.5:c.*316C= ENSP00000443964.1:n.*316C=
ENST00000540108.1:c.*780C= ENSP00000445445.1:n.*780C=
ENST00000541395.5:c.1340C= ENSP00000443112.1:p.Pro447=
ENST00000541924.5:c.*354C= ENSP00000440361.1:n.*354C=
ENST00000543255.1:n.384C=
ENST00000543427.5:c.803C= ENSP00000439721.2:p.Pro268=
ENST00000544413.2:c.1340C= ENSP00000438804.1:p.Pro447=
ENST00000544574.5:c.*103C= ENSP00000438565.1:n.*103C=
ENST00000560968.5:c.1157C=
ENST00000615446.4:c.128C= ENSP00000483994.1:p.Pro43=
ENST00000617366.4:c.587-130C= ENSP00000481967.1:n.587-130C=
NM_000545.5:c.1340C= , LRG_522t1:c.1340C= NP_000536.5:p.Pro447=
NM_000545.6:c.1340C= NP_000536.5:p.Pro447=
NM_001306179.1:c.1340C= NP_001293108.1:p.Pro447=
XM_005253931.2:c.1340C= XP_005253988.1:p.Pro447=
XM_024449168.1:c.1340C= XP_024304936.1:p.Pro447=
NM_000545.8:c.1340C= MANE Select NP_000536.6:p.Pro447=
NM_001306179.2:c.1340C= NP_001293108.2:p.Pro447=