Canonical Allele Identifier: CA2067686262
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997661C= , CM000674.2:g.120997661C= GRCh38
NC_000012.11:g.121435464C= , CM000674.1:g.121435464C= GRCh37
NC_000012.10:g.119919847C= NCBI36
NG_011731.2:g.23916C= , LRG_522:g.23916C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*244C= ENSP00000453965.2:n.*244C=
ENST00000257555.11:c.1497C= MANE Select ENSP00000257555.5:p.Pro499=
ENST00000257555.10:c.1497C= ENSP00000257555.4:p.Pro499=
ENST00000400024.6:c.1497C= ENSP00000476181.1:p.Pro499=
ENST00000402929.5:n.2363C=
ENST00000535955.5:n.213C=
ENST00000538626.2:n.361C=
ENST00000538646.5:c.*473C= ENSP00000443964.1:n.*473C=
ENST00000540108.1:c.*937C= ENSP00000445445.1:n.*937C=
ENST00000541395.5:c.1497C= ENSP00000443112.1:p.Pro499=
ENST00000541924.5:c.*511C= ENSP00000440361.1:n.*511C=
ENST00000543255.1:n.541C=
ENST00000543427.5:c.960C= ENSP00000439721.2:p.Pro320=
ENST00000544413.2:c.1497C= ENSP00000438804.1:p.Pro499=
ENST00000544574.5:c.*260C= ENSP00000438565.1:n.*260C=
ENST00000560968.5:c.1314C=
ENST00000615446.4:c.285C= ENSP00000483994.1:p.Pro95=
ENST00000617366.4:c.614C= ENSP00000481967.1:p.Pro205=
NM_000545.5:c.1497C= , LRG_522t1:c.1497C= NP_000536.5:p.Pro499=
NM_000545.6:c.1497C= NP_000536.5:p.Pro499=
NM_001306179.1:c.1497C= NP_001293108.1:p.Pro499=
XM_005253931.2:c.1497C= XP_005253988.1:p.Pro499=
XM_024449168.1:c.1497C= XP_024304936.1:p.Pro499=
NM_000545.8:c.1497C= MANE Select NP_000536.6:p.Pro499=
NM_001306179.2:c.1497C= NP_001293108.2:p.Pro499=