Canonical Allele Identifier: CA386970360
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs1565887211

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997647C>A , CM000674.2:g.120997647C>A GRCh38
NC_000012.11:g.121435450C>A , CM000674.1:g.121435450C>A GRCh37
NC_000012.10:g.119919833C>A NCBI36
NG_011731.2:g.23902C>A , LRG_522:g.23902C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*230C>A ENSP00000453965.2:n.*230C>A
ENST00000257555.11:c.1483C>A MANE Select ENSP00000257555.5:p.Gln495Lys
ENST00000257555.10:c.1483C>A ENSP00000257555.4:p.Gln495Lys
ENST00000400024.6:c.1483C>A ENSP00000476181.1:p.Gln495Lys
ENST00000402929.5:n.2349C>A
ENST00000535955.5:n.199C>A
ENST00000538626.2:n.347C>A
ENST00000538646.5:c.*459C>A ENSP00000443964.1:n.*459C>A
ENST00000540108.1:c.*923C>A ENSP00000445445.1:n.*923C>A
ENST00000541395.5:c.1483C>A ENSP00000443112.1:p.Gln495Lys
ENST00000541924.5:c.*497C>A ENSP00000440361.1:n.*497C>A
ENST00000543255.1:n.527C>A
ENST00000543427.5:c.946C>A ENSP00000439721.2:p.Gln316Lys
ENST00000544413.2:c.1483C>A ENSP00000438804.1:p.Gln495Lys
ENST00000544574.5:c.*246C>A ENSP00000438565.1:n.*246C>A
ENST00000560968.5:c.1300C>A
ENST00000615446.4:c.271C>A ENSP00000483994.1:p.Gln91Lys
ENST00000617366.4:c.600C>A ENSP00000481967.1:p.Leu200=
NM_000545.5:c.1483C>A , LRG_522t1:c.1483C>A NP_000536.5:p.Gln495Lys
NM_000545.6:c.1483C>A NP_000536.5:p.Gln495Lys
NM_001306179.1:c.1483C>A NP_001293108.1:p.Gln495Lys
XM_005253931.2:c.1483C>A XP_005253988.1:p.Gln495Lys
XM_024449168.1:c.1483C>A XP_024304936.1:p.Gln495Lys
NM_000545.8:c.1483C>A MANE Select NP_000536.6:p.Gln495Lys
NM_001306179.2:c.1483C>A NP_001293108.2:p.Gln495Lys