Canonical Allele Identifier: CA386970341
Gene: HNF1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997640C>T , CM000674.2:g.120997640C>T GRCh38
NC_000012.11:g.121435443C>T , CM000674.1:g.121435443C>T GRCh37
NC_000012.10:g.119919826C>T NCBI36
NG_011731.2:g.23895C>T , LRG_522:g.23895C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*223C>T ENSP00000453965.2:n.*223C>T
ENST00000257555.11:c.1476C>T MANE Select ENSP00000257555.5:p.Thr492=
ENST00000257555.10:c.1476C>T ENSP00000257555.4:p.Thr492=
ENST00000400024.6:c.1476C>T ENSP00000476181.1:p.Thr492=
ENST00000402929.5:n.2342C>T
ENST00000535955.5:n.192C>T
ENST00000538626.2:n.340C>T
ENST00000538646.5:c.*452C>T ENSP00000443964.1:n.*452C>T
ENST00000540108.1:c.*916C>T ENSP00000445445.1:n.*916C>T
ENST00000541395.5:c.1476C>T ENSP00000443112.1:p.Thr492=
ENST00000541924.5:c.*490C>T ENSP00000440361.1:n.*490C>T
ENST00000543255.1:n.520C>T
ENST00000543427.5:c.939C>T ENSP00000439721.2:p.Thr313=
ENST00000544413.2:c.1476C>T ENSP00000438804.1:p.Thr492=
ENST00000544574.5:c.*239C>T ENSP00000438565.1:n.*239C>T
ENST00000560968.5:c.1293C>T
ENST00000615446.4:c.264C>T ENSP00000483994.1:p.Thr88=
ENST00000617366.4:c.593C>T ENSP00000481967.1:p.Pro198Leu
NM_000545.5:c.1476C>T , LRG_522t1:c.1476C>T NP_000536.5:p.Thr492=
NM_000545.6:c.1476C>T NP_000536.5:p.Thr492=
NM_001306179.1:c.1476C>T NP_001293108.1:p.Thr492=
XM_005253931.2:c.1476C>T XP_005253988.1:p.Thr492=
XM_024449168.1:c.1476C>T XP_024304936.1:p.Thr492=
NM_000545.8:c.1476C>T MANE Select NP_000536.6:p.Thr492=
NM_001306179.2:c.1476C>T NP_001293108.2:p.Thr492=