Canonical Allele Identifier: CA2067686203
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997638A= , CM000674.2:g.120997638A= GRCh38
NC_000012.11:g.121435441A= , CM000674.1:g.121435441A= GRCh37
NC_000012.10:g.119919824A= NCBI36
NG_011731.2:g.23893A= , LRG_522:g.23893A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*221A= ENSP00000453965.2:n.*221A=
ENST00000257555.11:c.1474A= MANE Select ENSP00000257555.5:p.Thr492=
ENST00000257555.10:c.1474A= ENSP00000257555.4:p.Thr492=
ENST00000400024.6:c.1474A= ENSP00000476181.1:p.Thr492=
ENST00000402929.5:n.2340A=
ENST00000535955.5:n.190A=
ENST00000538626.2:n.338A=
ENST00000538646.5:c.*450A= ENSP00000443964.1:n.*450A=
ENST00000540108.1:c.*914A= ENSP00000445445.1:n.*914A=
ENST00000541395.5:c.1474A= ENSP00000443112.1:p.Thr492=
ENST00000541924.5:c.*488A= ENSP00000440361.1:n.*488A=
ENST00000543255.1:n.518A=
ENST00000543427.5:c.937A= ENSP00000439721.2:p.Thr313=
ENST00000544413.2:c.1474A= ENSP00000438804.1:p.Thr492=
ENST00000544574.5:c.*237A= ENSP00000438565.1:n.*237A=
ENST00000560968.5:c.1291A=
ENST00000615446.4:c.262A= ENSP00000483994.1:p.Thr88=
ENST00000617366.4:c.591A= ENSP00000481967.1:p.Pro197=
NM_000545.5:c.1474A= , LRG_522t1:c.1474A= NP_000536.5:p.Thr492=
NM_000545.6:c.1474A= NP_000536.5:p.Thr492=
NM_001306179.1:c.1474A= NP_001293108.1:p.Thr492=
XM_005253931.2:c.1474A= XP_005253988.1:p.Thr492=
XM_024449168.1:c.1474A= XP_024304936.1:p.Thr492=
NM_000545.8:c.1474A= MANE Select NP_000536.6:p.Thr492=
NM_001306179.2:c.1474A= NP_001293108.2:p.Thr492=