Canonical Allele Identifier: CA2067679419
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994249T= , CM000674.2:g.120994249T= GRCh38
NC_000012.11:g.121432052T= , CM000674.1:g.121432052T= GRCh37
NC_000012.10:g.119916435T= NCBI36
NG_011731.2:g.20504T= , LRG_522:g.20504T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+49T= ENSP00000453965.2:n.750+49T=
ENST00000257555.11:c.799T= MANE Select ENSP00000257555.5:p.Trp267=
ENST00000257555.10:c.799T= ENSP00000257555.4:p.Trp267=
ENST00000400024.6:c.799T= ENSP00000476181.1:p.Trp267=
ENST00000402929.5:n.934T=
ENST00000535955.5:n.43-3242T=
ENST00000538626.2:n.191-3242T=
ENST00000538646.5:c.612T= ENSP00000443964.1:p.Thr204=
ENST00000540108.1:c.*239T= ENSP00000445445.1:n.*239T=
ENST00000541395.5:c.799T= ENSP00000443112.1:p.Trp267=
ENST00000541924.5:c.713+543T= ENSP00000440361.1:n.713+543T=
ENST00000543427.5:c.633+623T= ENSP00000439721.2:n.633+623T=
ENST00000544413.2:c.799T= ENSP00000438804.1:p.Trp267=
ENST00000544574.5:c.73-2368T= ENSP00000438565.1:n.73-2368T=
ENST00000560968.5:c.893+49T=
ENST00000615446.4:c.-257-2013T= ENSP00000483994.1:n.-257-2013T=
ENST00000617366.4:c.586+670T= ENSP00000481967.1:n.586+670T=
NM_000545.5:c.799T= , LRG_522t1:c.799T= NP_000536.5:p.Trp267=
NM_000545.6:c.799T= NP_000536.5:p.Trp267=
NM_001306179.1:c.799T= NP_001293108.1:p.Trp267=
XM_005253931.2:c.799T= XP_005253988.1:p.Trp267=
XM_024449168.1:c.799T= XP_024304936.1:p.Trp267=
NM_000545.8:c.799T= MANE Select NP_000536.6:p.Trp267=
NM_001306179.2:c.799T= NP_001293108.2:p.Trp267=