Canonical Allele Identifier: CA2067678221
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993550T= , CM000674.2:g.120993550T= GRCh38
NC_000012.11:g.121431353T= , CM000674.1:g.121431353T= GRCh37
NC_000012.10:g.119915736T= NCBI36
NG_011731.2:g.19805T= , LRG_522:g.19805T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.557T= ENSP00000453965.2:p.Ile186=
ENST00000257555.11:c.557T= MANE Select ENSP00000257555.5:p.Ile186=
ENST00000257555.10:c.557T= ENSP00000257555.4:p.Ile186=
ENST00000400024.6:c.557T= ENSP00000476181.1:p.Ile186=
ENST00000402929.5:n.692T=
ENST00000535955.5:n.43-3941T=
ENST00000538626.2:n.191-3941T=
ENST00000538646.5:c.527-614T= ENSP00000443964.1:n.527-614T=
ENST00000540108.1:c.357T= ENSP00000445445.1:p.Asp119=
ENST00000541395.5:c.557T= ENSP00000443112.1:p.Ile186=
ENST00000541924.5:c.557T= ENSP00000440361.1:p.Ile186=
ENST00000543427.5:c.557T= ENSP00000439721.2:p.Ile186=
ENST00000544413.2:c.557T= ENSP00000438804.1:p.Ile186=
ENST00000544574.5:c.73-3067T= ENSP00000438565.1:n.73-3067T=
ENST00000560968.5:c.700T=
ENST00000615446.4:c.-257-2712T= ENSP00000483994.1:n.-257-2712T=
ENST00000617366.4:c.557T= ENSP00000481967.1:p.Ile186=
NM_000545.5:c.557T= , LRG_522t1:c.557T= NP_000536.5:p.Ile186=
NM_000545.6:c.557T= NP_000536.5:p.Ile186=
NM_001306179.1:c.557T= NP_001293108.1:p.Ile186=
XM_005253931.2:c.557T= XP_005253988.1:p.Ile186=
XM_024449168.1:c.557T= XP_024304936.1:p.Ile186=
NM_000545.8:c.557T= MANE Select NP_000536.6:p.Ile186=
NM_001306179.2:c.557T= NP_001293108.2:p.Ile186=