Canonical Allele Identifier: CA2067686043
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997602G= , CM000674.2:g.120997602G= GRCh38
NC_000012.11:g.121435405G= , CM000674.1:g.121435405G= GRCh37
NC_000012.10:g.119919788G= NCBI36
NG_011731.2:g.23857G= , LRG_522:g.23857G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*185G= ENSP00000453965.2:n.*185G=
ENST00000257555.11:c.1438G= MANE Select ENSP00000257555.5:p.Val480=
ENST00000257555.10:c.1438G= ENSP00000257555.4:p.Val480=
ENST00000400024.6:c.1438G= ENSP00000476181.1:p.Val480=
ENST00000402929.5:n.2304G=
ENST00000535955.5:n.154G=
ENST00000538626.2:n.302G=
ENST00000538646.5:c.*414G= ENSP00000443964.1:n.*414G=
ENST00000540108.1:c.*878G= ENSP00000445445.1:n.*878G=
ENST00000541395.5:c.1438G= ENSP00000443112.1:p.Val480=
ENST00000541924.5:c.*452G= ENSP00000440361.1:n.*452G=
ENST00000543255.1:n.482G=
ENST00000543427.5:c.901G= ENSP00000439721.2:p.Val301=
ENST00000544413.2:c.1438G= ENSP00000438804.1:p.Val480=
ENST00000544574.5:c.*201G= ENSP00000438565.1:n.*201G=
ENST00000560968.5:c.1255G=
ENST00000615446.4:c.226G= ENSP00000483994.1:p.Val76=
ENST00000617366.4:c.587-32G= ENSP00000481967.1:n.587-32G=
NM_000545.5:c.1438G= , LRG_522t1:c.1438G= NP_000536.5:p.Val480=
NM_000545.6:c.1438G= NP_000536.5:p.Val480=
NM_001306179.1:c.1438G= NP_001293108.1:p.Val480=
XM_005253931.2:c.1438G= XP_005253988.1:p.Val480=
XM_024449168.1:c.1438G= XP_024304936.1:p.Val480=
NM_000545.8:c.1438G= MANE Select NP_000536.6:p.Val480=
NM_001306179.2:c.1438G= NP_001293108.2:p.Val480=