Canonical Allele Identifier: CA2727249584
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135845655

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120996497T>A , CM000674.2:g.120996497T>A GRCh38
NC_000012.11:g.121434300T>A , CM000674.1:g.121434300T>A GRCh37
NC_000012.10:g.119918683T>A NCBI36
NG_011731.2:g.22752T>A , LRG_522:g.22752T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000560968.6:c.782-44T>A ENSP00000453965.2:n.782-44T>A
ENST00000257555.11:c.1108-44T>A MANE Select ENSP00000257555.5:n.1108-44T>A
ENST00000257555.10:c.1108-44T>A ENSP00000257555.4:n.1108-44T>A
ENST00000400024.6:c.1108-44T>A ENSP00000476181.1:n.1108-44T>A
ENST00000402929.5:n.1243-44T>A
ENST00000535955.5:n.43-994T>A
ENST00000538626.2:n.191-994T>A
ENST00000538646.5:c.*84-44T>A ENSP00000443964.1:n.*84-44T>A
ENST00000540108.1:c.*548-44T>A ENSP00000445445.1:n.*548-44T>A
ENST00000541395.5:c.1108-44T>A ENSP00000443112.1:n.1108-44T>A
ENST00000541924.5:c.*122-44T>A ENSP00000440361.1:n.*122-44T>A
ENST00000543255.1:n.108T>A
ENST00000543427.5:c.634-107T>A ENSP00000439721.2:n.634-107T>A
ENST00000544413.2:c.1108-44T>A ENSP00000438804.1:n.1108-44T>A
ENST00000544574.5:c.73-120T>A ENSP00000438565.1:n.73-120T>A
ENST00000560968.5:c.925-44T>A
ENST00000615446.4:c.-105-44T>A ENSP00000483994.1:n.-105-44T>A
ENST00000617366.4:c.587-1137T>A ENSP00000481967.1:n.587-1137T>A
NM_000545.5:c.1108-44T>A , LRG_522t1:c.1108-44T>A NP_000536.5:n.1108-44T>A
NM_000545.6:c.1108-44T>A NP_000536.5:n.1108-44T>A
NM_001306179.1:c.1108-44T>A NP_001293108.1:n.1108-44T>A
XM_005253931.2:c.1108-44T>A XP_005253988.1:n.1108-44T>A
XM_024449168.1:c.1108-44T>A XP_024304936.1:n.1108-44T>A
NM_000545.8:c.1108-44T>A MANE Select NP_000536.6:n.1108-44T>A
NM_001306179.2:c.1108-44T>A NP_001293108.2:n.1108-44T>A