Canonical Allele Identifier: CA386966590
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135842162

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994309A>C , CM000674.2:g.120994309A>C GRCh38
NC_000012.11:g.121432112A>C , CM000674.1:g.121432112A>C GRCh37
NC_000012.10:g.119916495A>C NCBI36
NG_011731.2:g.20564A>C , LRG_522:g.20564A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+109A>C ENSP00000453965.2:n.750+109A>C
ENST00000257555.11:c.859A>C MANE Select ENSP00000257555.5:p.Ser287Arg
ENST00000257555.10:c.859A>C ENSP00000257555.4:p.Ser287Arg
ENST00000400024.6:c.859A>C ENSP00000476181.1:p.Ser287Arg
ENST00000402929.5:n.994A>C
ENST00000535955.5:n.43-3182A>C
ENST00000538626.2:n.191-3182A>C
ENST00000538646.5:c.672A>C ENSP00000443964.1:p.Thr224=
ENST00000540108.1:c.*299A>C ENSP00000445445.1:n.*299A>C
ENST00000541395.5:c.859A>C ENSP00000443112.1:p.Ser287Arg
ENST00000541924.5:c.713+603A>C ENSP00000440361.1:n.713+603A>C
ENST00000543427.5:c.633+683A>C ENSP00000439721.2:n.633+683A>C
ENST00000544413.2:c.859A>C ENSP00000438804.1:p.Ser287Arg
ENST00000544574.5:c.73-2308A>C ENSP00000438565.1:n.73-2308A>C
ENST00000560968.5:c.893+109A>C
ENST00000615446.4:c.-257-1953A>C ENSP00000483994.1:n.-257-1953A>C
ENST00000617366.4:c.586+730A>C ENSP00000481967.1:n.586+730A>C
NM_000545.5:c.859A>C , LRG_522t1:c.859A>C NP_000536.5:p.Ser287Arg
NM_000545.6:c.859A>C NP_000536.5:p.Ser287Arg
NM_001306179.1:c.859A>C NP_001293108.1:p.Ser287Arg
XM_005253931.2:c.859A>C XP_005253988.1:p.Ser287Arg
XM_024449168.1:c.859A>C XP_024304936.1:p.Ser287Arg
NM_000545.8:c.859A>C MANE Select NP_000536.6:p.Ser287Arg
NM_001306179.2:c.859A>C NP_001293108.2:p.Ser287Arg