Canonical Allele Identifier: CA2067679291
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994215C= , CM000674.2:g.120994215C= GRCh38
NC_000012.11:g.121432018C= , CM000674.1:g.121432018C= GRCh37
NC_000012.10:g.119916401C= NCBI36
NG_011731.2:g.20470C= , LRG_522:g.20470C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+15C= ENSP00000453965.2:n.750+15C=
ENST00000257555.11:c.765C= MANE Select ENSP00000257555.5:p.Gly255=
ENST00000257555.10:c.765C= ENSP00000257555.4:p.Gly255=
ENST00000400024.6:c.765C= ENSP00000476181.1:p.Gly255=
ENST00000402929.5:n.900C=
ENST00000535955.5:n.43-3276C=
ENST00000538626.2:n.191-3276C=
ENST00000538646.5:c.578C= ENSP00000443964.1:p.Ala193=
ENST00000540108.1:c.*205C= ENSP00000445445.1:n.*205C=
ENST00000541395.5:c.765C= ENSP00000443112.1:p.Gly255=
ENST00000541924.5:c.713+509C= ENSP00000440361.1:n.713+509C=
ENST00000543427.5:c.633+589C= ENSP00000439721.2:n.633+589C=
ENST00000544413.2:c.765C= ENSP00000438804.1:p.Gly255=
ENST00000544574.5:c.73-2402C= ENSP00000438565.1:n.73-2402C=
ENST00000560968.5:c.893+15C=
ENST00000615446.4:c.-257-2047C= ENSP00000483994.1:n.-257-2047C=
ENST00000617366.4:c.586+636C= ENSP00000481967.1:n.586+636C=
NM_000545.5:c.765C= , LRG_522t1:c.765C= NP_000536.5:p.Gly255=
NM_000545.6:c.765C= NP_000536.5:p.Gly255=
NM_001306179.1:c.765C= NP_001293108.1:p.Gly255=
XM_005253931.2:c.765C= XP_005253988.1:p.Gly255=
XM_024449168.1:c.765C= XP_024304936.1:p.Gly255=
NM_000545.8:c.765C= MANE Select NP_000536.6:p.Gly255=
NM_001306179.2:c.765C= NP_001293108.2:p.Gly255=