Canonical Allele Identifier: CA386970367
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135848169

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997649G>A , CM000674.2:g.120997649G>A GRCh38
NC_000012.11:g.121435452G>A , CM000674.1:g.121435452G>A GRCh37
NC_000012.10:g.119919835G>A NCBI36
NG_011731.2:g.23904G>A , LRG_522:g.23904G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*232G>A ENSP00000453965.2:n.*232G>A
ENST00000257555.11:c.1485G>A MANE Select ENSP00000257555.5:p.Gln495=
ENST00000257555.10:c.1485G>A ENSP00000257555.4:p.Gln495=
ENST00000400024.6:c.1485G>A ENSP00000476181.1:p.Gln495=
ENST00000402929.5:n.2351G>A
ENST00000535955.5:n.201G>A
ENST00000538626.2:n.349G>A
ENST00000538646.5:c.*461G>A ENSP00000443964.1:n.*461G>A
ENST00000540108.1:c.*925G>A ENSP00000445445.1:n.*925G>A
ENST00000541395.5:c.1485G>A ENSP00000443112.1:p.Gln495=
ENST00000541924.5:c.*499G>A ENSP00000440361.1:n.*499G>A
ENST00000543255.1:n.529G>A
ENST00000543427.5:c.948G>A ENSP00000439721.2:p.Gln316=
ENST00000544413.2:c.1485G>A ENSP00000438804.1:p.Gln495=
ENST00000544574.5:c.*248G>A ENSP00000438565.1:n.*248G>A
ENST00000560968.5:c.1302G>A
ENST00000615446.4:c.273G>A ENSP00000483994.1:p.Gln91=
ENST00000617366.4:c.602G>A ENSP00000481967.1:p.Ser201Asn
NM_000545.5:c.1485G>A , LRG_522t1:c.1485G>A NP_000536.5:p.Gln495=
NM_000545.6:c.1485G>A NP_000536.5:p.Gln495=
NM_001306179.1:c.1485G>A NP_001293108.1:p.Gln495=
XM_005253931.2:c.1485G>A XP_005253988.1:p.Gln495=
XM_024449168.1:c.1485G>A XP_024304936.1:p.Gln495=
NM_000545.8:c.1485G>A MANE Select NP_000536.6:p.Gln495=
NM_001306179.2:c.1485G>A NP_001293108.2:p.Gln495=