Canonical Allele Identifier: CA2067679617
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994316C= , CM000674.2:g.120994316C= GRCh38
NC_000012.11:g.121432119C= , CM000674.1:g.121432119C= GRCh37
NC_000012.10:g.119916502C= NCBI36
NG_011731.2:g.20571C= , LRG_522:g.20571C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+116C= ENSP00000453965.2:n.750+116C=
ENST00000257555.11:c.866C= MANE Select ENSP00000257555.5:p.Pro289=
ENST00000257555.10:c.866C= ENSP00000257555.4:p.Pro289=
ENST00000400024.6:c.866C= ENSP00000476181.1:p.Pro289=
ENST00000402929.5:n.1001C=
ENST00000535955.5:n.43-3175C=
ENST00000538626.2:n.191-3175C=
ENST00000538646.5:c.679C= ENSP00000443964.1:p.Pro227=
ENST00000540108.1:c.*306C= ENSP00000445445.1:n.*306C=
ENST00000541395.5:c.866C= ENSP00000443112.1:p.Pro289=
ENST00000541924.5:c.713+610C= ENSP00000440361.1:n.713+610C=
ENST00000543427.5:c.633+690C= ENSP00000439721.2:n.633+690C=
ENST00000544413.2:c.866C= ENSP00000438804.1:p.Pro289=
ENST00000544574.5:c.73-2301C= ENSP00000438565.1:n.73-2301C=
ENST00000560968.5:c.893+116C=
ENST00000615446.4:c.-257-1946C= ENSP00000483994.1:n.-257-1946C=
ENST00000617366.4:c.586+737C= ENSP00000481967.1:n.586+737C=
NM_000545.5:c.866C= , LRG_522t1:c.866C= NP_000536.5:p.Pro289=
NM_000545.6:c.866C= NP_000536.5:p.Pro289=
NM_001306179.1:c.866C= NP_001293108.1:p.Pro289=
XM_005253931.2:c.866C= XP_005253988.1:p.Pro289=
XM_024449168.1:c.866C= XP_024304936.1:p.Pro289=
NM_000545.8:c.866C= MANE Select NP_000536.6:p.Pro289=
NM_001306179.2:c.866C= NP_001293108.2:p.Pro289=