Canonical Allele Identifier: CA386970089
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135847564

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997528G>A , CM000674.2:g.120997528G>A GRCh38
NC_000012.11:g.121435331G>A , CM000674.1:g.121435331G>A GRCh37
NC_000012.10:g.119919714G>A NCBI36
NG_011731.2:g.23783G>A , LRG_522:g.23783G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*111G>A ENSP00000453965.2:n.*111G>A
ENST00000257555.11:c.1364G>A MANE Select ENSP00000257555.5:p.Ser455Asn
ENST00000257555.10:c.1364G>A ENSP00000257555.4:p.Ser455Asn
ENST00000400024.6:c.1364G>A ENSP00000476181.1:p.Ser455Asn
ENST00000402929.5:n.2230G>A
ENST00000535955.5:n.80G>A
ENST00000538626.2:n.228G>A
ENST00000538646.5:c.*340G>A ENSP00000443964.1:n.*340G>A
ENST00000540108.1:c.*804G>A ENSP00000445445.1:n.*804G>A
ENST00000541395.5:c.1364G>A ENSP00000443112.1:p.Ser455Asn
ENST00000541924.5:c.*378G>A ENSP00000440361.1:n.*378G>A
ENST00000543255.1:n.408G>A
ENST00000543427.5:c.827G>A ENSP00000439721.2:p.Ser276Asn
ENST00000544413.2:c.1364G>A ENSP00000438804.1:p.Ser455Asn
ENST00000544574.5:c.*127G>A ENSP00000438565.1:n.*127G>A
ENST00000560968.5:c.1181G>A
ENST00000615446.4:c.152G>A ENSP00000483994.1:p.Ser51Asn
ENST00000617366.4:c.587-106G>A ENSP00000481967.1:n.587-106G>A
NM_000545.5:c.1364G>A , LRG_522t1:c.1364G>A NP_000536.5:p.Ser455Asn
NM_000545.6:c.1364G>A NP_000536.5:p.Ser455Asn
NM_001306179.1:c.1364G>A NP_001293108.1:p.Ser455Asn
XM_005253931.2:c.1364G>A XP_005253988.1:p.Ser455Asn
XM_024449168.1:c.1364G>A XP_024304936.1:p.Ser455Asn
NM_000545.8:c.1364G>A MANE Select NP_000536.6:p.Ser455Asn
NM_001306179.2:c.1364G>A NP_001293108.2:p.Ser455Asn