Canonical Allele Identifier: CA2067686500
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997730G= , CM000674.2:g.120997730G= GRCh38
NC_000012.11:g.121435533G= , CM000674.1:g.121435533G= GRCh37
NC_000012.10:g.119919916G= NCBI36
NG_011731.2:g.23985G= , LRG_522:g.23985G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*248+65G= ENSP00000453965.2:n.*248+65G=
ENST00000257555.11:c.1501+65G= MANE Select ENSP00000257555.5:n.1501+65G=
ENST00000257555.10:c.1501+65G= ENSP00000257555.4:n.1501+65G=
ENST00000400024.6:c.1566G= ENSP00000476181.1:p.Gly522=
ENST00000402929.5:n.2432G=
ENST00000535955.5:n.282G=
ENST00000538626.2:n.430G=
ENST00000538646.5:c.*542G= ENSP00000443964.1:n.*542G=
ENST00000540108.1:c.*941+65G= ENSP00000445445.1:n.*941+65G=
ENST00000541395.5:c.1501+65G= ENSP00000443112.1:n.1501+65G=
ENST00000541924.5:c.*580G= ENSP00000440361.1:n.*580G=
ENST00000543255.1:n.610G=
ENST00000543427.5:c.964+65G= ENSP00000439721.2:n.964+65G=
ENST00000544413.2:c.1501+65G= ENSP00000438804.1:n.1501+65G=
ENST00000544574.5:c.*329G= ENSP00000438565.1:n.*329G=
ENST00000560968.5:c.1318+65G=
ENST00000615446.4:c.289+65G= ENSP00000483994.1:n.289+65G=
ENST00000617366.4:c.618+65G= ENSP00000481967.1:n.618+65G=
NM_000545.5:c.1501+65G= , LRG_522t1:c.1501+65G= NP_000536.5:n.1501+65G=
NM_000545.6:c.1501+65G= NP_000536.5:n.1501+65G=
NM_001306179.1:c.1501+65G= NP_001293108.1:n.1501+65G=
XM_005253931.2:c.1501+65G= XP_005253988.1:n.1501+65G=
XM_024449168.1:c.1501+65G= XP_024304936.1:n.1501+65G=
NM_000545.8:c.1501+65G= MANE Select NP_000536.6:n.1501+65G=
NM_001306179.2:c.1501+65G= NP_001293108.2:n.1501+65G=