Canonical Allele Identifier: CA244533025
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1763147
ClinVar RCV Id: RCV002434807
dbSNP Id: rs955710491

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994287C>T , CM000674.2:g.120994287C>T GRCh38
NC_000012.11:g.121432090C>T , CM000674.1:g.121432090C>T GRCh37
NC_000012.10:g.119916473C>T NCBI36
NG_011731.2:g.20542C>T , LRG_522:g.20542C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+87C>T ENSP00000453965.2:n.750+87C>T
ENST00000257555.11:c.837C>T MANE Select ENSP00000257555.5:p.His279=
ENST00000257555.10:c.837C>T ENSP00000257555.4:p.His279=
ENST00000400024.6:c.837C>T ENSP00000476181.1:p.His279=
ENST00000402929.5:n.972C>T
ENST00000535955.5:n.43-3204C>T
ENST00000538626.2:n.191-3204C>T
ENST00000538646.5:c.650C>T ENSP00000443964.1:p.Thr217Ile
ENST00000540108.1:c.*277C>T ENSP00000445445.1:n.*277C>T
ENST00000541395.5:c.837C>T ENSP00000443112.1:p.His279=
ENST00000541924.5:c.713+581C>T ENSP00000440361.1:n.713+581C>T
ENST00000543427.5:c.633+661C>T ENSP00000439721.2:n.633+661C>T
ENST00000544413.2:c.837C>T ENSP00000438804.1:p.His279=
ENST00000544574.5:c.73-2330C>T ENSP00000438565.1:n.73-2330C>T
ENST00000560968.5:c.893+87C>T
ENST00000615446.4:c.-257-1975C>T ENSP00000483994.1:n.-257-1975C>T
ENST00000617366.4:c.586+708C>T ENSP00000481967.1:n.586+708C>T
NM_000545.5:c.837C>T , LRG_522t1:c.837C>T NP_000536.5:p.His279=
NM_000545.6:c.837C>T NP_000536.5:p.His279=
NM_001306179.1:c.837C>T NP_001293108.1:p.His279=
XM_005253931.2:c.837C>T XP_005253988.1:p.His279=
XM_024449168.1:c.837C>T XP_024304936.1:p.His279=
NM_000545.8:c.837C>T MANE Select NP_000536.6:p.His279=
NM_001306179.2:c.837C>T NP_001293108.2:p.His279=