Canonical Allele Identifier: CA2067686196
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997637C= , CM000674.2:g.120997637C= GRCh38
NC_000012.11:g.121435440C= , CM000674.1:g.121435440C= GRCh37
NC_000012.10:g.119919823C= NCBI36
NG_011731.2:g.23892C= , LRG_522:g.23892C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*220C= ENSP00000453965.2:n.*220C=
ENST00000257555.11:c.1473C= MANE Select ENSP00000257555.5:p.Ala491=
ENST00000257555.10:c.1473C= ENSP00000257555.4:p.Ala491=
ENST00000400024.6:c.1473C= ENSP00000476181.1:p.Ala491=
ENST00000402929.5:n.2339C=
ENST00000535955.5:n.189C=
ENST00000538626.2:n.337C=
ENST00000538646.5:c.*449C= ENSP00000443964.1:n.*449C=
ENST00000540108.1:c.*913C= ENSP00000445445.1:n.*913C=
ENST00000541395.5:c.1473C= ENSP00000443112.1:p.Ala491=
ENST00000541924.5:c.*487C= ENSP00000440361.1:n.*487C=
ENST00000543255.1:n.517C=
ENST00000543427.5:c.936C= ENSP00000439721.2:p.Ala312=
ENST00000544413.2:c.1473C= ENSP00000438804.1:p.Ala491=
ENST00000544574.5:c.*236C= ENSP00000438565.1:n.*236C=
ENST00000560968.5:c.1290C=
ENST00000615446.4:c.261C= ENSP00000483994.1:p.Ala87=
ENST00000617366.4:c.590C= ENSP00000481967.1:p.Pro197=
NM_000545.5:c.1473C= , LRG_522t1:c.1473C= NP_000536.5:p.Ala491=
NM_000545.6:c.1473C= NP_000536.5:p.Ala491=
NM_001306179.1:c.1473C= NP_001293108.1:p.Ala491=
XM_005253931.2:c.1473C= XP_005253988.1:p.Ala491=
XM_024449168.1:c.1473C= XP_024304936.1:p.Ala491=
NM_000545.8:c.1473C= MANE Select NP_000536.6:p.Ala491=
NM_001306179.2:c.1473C= NP_001293108.2:p.Ala491=