Canonical Allele Identifier: CA2067686005
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997588C= , CM000674.2:g.120997588C= GRCh38
NC_000012.11:g.121435391C= , CM000674.1:g.121435391C= GRCh37
NC_000012.10:g.119919774C= NCBI36
NG_011731.2:g.23843C= , LRG_522:g.23843C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*171C= ENSP00000453965.2:n.*171C=
ENST00000257555.11:c.1424C= MANE Select ENSP00000257555.5:p.Pro475=
ENST00000257555.10:c.1424C= ENSP00000257555.4:p.Pro475=
ENST00000400024.6:c.1424C= ENSP00000476181.1:p.Pro475=
ENST00000402929.5:n.2290C=
ENST00000535955.5:n.140C=
ENST00000538626.2:n.288C=
ENST00000538646.5:c.*400C= ENSP00000443964.1:n.*400C=
ENST00000540108.1:c.*864C= ENSP00000445445.1:n.*864C=
ENST00000541395.5:c.1424C= ENSP00000443112.1:p.Pro475=
ENST00000541924.5:c.*438C= ENSP00000440361.1:n.*438C=
ENST00000543255.1:n.468C=
ENST00000543427.5:c.887C= ENSP00000439721.2:p.Pro296=
ENST00000544413.2:c.1424C= ENSP00000438804.1:p.Pro475=
ENST00000544574.5:c.*187C= ENSP00000438565.1:n.*187C=
ENST00000560968.5:c.1241C=
ENST00000615446.4:c.212C= ENSP00000483994.1:p.Pro71=
ENST00000617366.4:c.587-46C= ENSP00000481967.1:n.587-46C=
NM_000545.5:c.1424C= , LRG_522t1:c.1424C= NP_000536.5:p.Pro475=
NM_000545.6:c.1424C= NP_000536.5:p.Pro475=
NM_001306179.1:c.1424C= NP_001293108.1:p.Pro475=
XM_005253931.2:c.1424C= XP_005253988.1:p.Pro475=
XM_024449168.1:c.1424C= XP_024304936.1:p.Pro475=
NM_000545.8:c.1424C= MANE Select NP_000536.6:p.Pro475=
NM_001306179.2:c.1424C= NP_001293108.2:p.Pro475=