Canonical Allele Identifier: CA386970270
Gene: HNF1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997611C>A , CM000674.2:g.120997611C>A GRCh38
NC_000012.11:g.121435414C>A , CM000674.1:g.121435414C>A GRCh37
NC_000012.10:g.119919797C>A NCBI36
NG_011731.2:g.23866C>A , LRG_522:g.23866C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*194C>A ENSP00000453965.2:n.*194C>A
ENST00000257555.11:c.1447C>A MANE Select ENSP00000257555.5:p.His483Asn
ENST00000257555.10:c.1447C>A ENSP00000257555.4:p.His483Asn
ENST00000400024.6:c.1447C>A ENSP00000476181.1:p.His483Asn
ENST00000402929.5:n.2313C>A
ENST00000535955.5:n.163C>A
ENST00000538626.2:n.311C>A
ENST00000538646.5:c.*423C>A ENSP00000443964.1:n.*423C>A
ENST00000540108.1:c.*887C>A ENSP00000445445.1:n.*887C>A
ENST00000541395.5:c.1447C>A ENSP00000443112.1:p.His483Asn
ENST00000541924.5:c.*461C>A ENSP00000440361.1:n.*461C>A
ENST00000543255.1:n.491C>A
ENST00000543427.5:c.910C>A ENSP00000439721.2:p.His304Asn
ENST00000544413.2:c.1447C>A ENSP00000438804.1:p.His483Asn
ENST00000544574.5:c.*210C>A ENSP00000438565.1:n.*210C>A
ENST00000560968.5:c.1264C>A
ENST00000615446.4:c.235C>A ENSP00000483994.1:p.His79Asn
ENST00000617366.4:c.587-23C>A ENSP00000481967.1:n.587-23C>A
NM_000545.5:c.1447C>A , LRG_522t1:c.1447C>A NP_000536.5:p.His483Asn
NM_000545.6:c.1447C>A NP_000536.5:p.His483Asn
NM_001306179.1:c.1447C>A NP_001293108.1:p.His483Asn
XM_005253931.2:c.1447C>A XP_005253988.1:p.His483Asn
XM_024449168.1:c.1447C>A XP_024304936.1:p.His483Asn
NM_000545.8:c.1447C>A MANE Select NP_000536.6:p.His483Asn
NM_001306179.2:c.1447C>A NP_001293108.2:p.His483Asn