Canonical Allele Identifier: CA2067686225
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997642T= , CM000674.2:g.120997642T= GRCh38
NC_000012.11:g.121435445T= , CM000674.1:g.121435445T= GRCh37
NC_000012.10:g.119919828T= NCBI36
NG_011731.2:g.23897T= , LRG_522:g.23897T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*225T= ENSP00000453965.2:n.*225T=
ENST00000257555.11:c.1478T= MANE Select ENSP00000257555.5:p.Met493=
ENST00000257555.10:c.1478T= ENSP00000257555.4:p.Met493=
ENST00000400024.6:c.1478T= ENSP00000476181.1:p.Met493=
ENST00000402929.5:n.2344T=
ENST00000535955.5:n.194T=
ENST00000538626.2:n.342T=
ENST00000538646.5:c.*454T= ENSP00000443964.1:n.*454T=
ENST00000540108.1:c.*918T= ENSP00000445445.1:n.*918T=
ENST00000541395.5:c.1478T= ENSP00000443112.1:p.Met493=
ENST00000541924.5:c.*492T= ENSP00000440361.1:n.*492T=
ENST00000543255.1:n.522T=
ENST00000543427.5:c.941T= ENSP00000439721.2:p.Met314=
ENST00000544413.2:c.1478T= ENSP00000438804.1:p.Met493=
ENST00000544574.5:c.*241T= ENSP00000438565.1:n.*241T=
ENST00000560968.5:c.1295T=
ENST00000615446.4:c.266T= ENSP00000483994.1:p.Met89=
ENST00000617366.4:c.595T= ENSP00000481967.1:p.Trp199=
NM_000545.5:c.1478T= , LRG_522t1:c.1478T= NP_000536.5:p.Met493=
NM_000545.6:c.1478T= NP_000536.5:p.Met493=
NM_001306179.1:c.1478T= NP_001293108.1:p.Met493=
XM_005253931.2:c.1478T= XP_005253988.1:p.Met493=
XM_024449168.1:c.1478T= XP_024304936.1:p.Met493=
NM_000545.8:c.1478T= MANE Select NP_000536.6:p.Met493=
NM_001306179.2:c.1478T= NP_001293108.2:p.Met493=