Canonical Allele Identifier: CA6832033
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 447482
dbSNP Id: rs143015301

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997550C>T , CM000674.2:g.120997550C>T GRCh38
NC_000012.11:g.121435353C>T , CM000674.1:g.121435353C>T GRCh37
NC_000012.10:g.119919736C>T NCBI36
NG_011731.2:g.23805C>T , LRG_522:g.23805C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*133C>T ENSP00000453965.2:n.*133C>T
ENST00000257555.11:c.1386C>T MANE Select ENSP00000257555.5:p.Val462=
ENST00000257555.10:c.1386C>T ENSP00000257555.4:p.Val462=
ENST00000400024.6:c.1386C>T ENSP00000476181.1:p.Val462=
ENST00000402929.5:n.2252C>T
ENST00000535955.5:n.102C>T
ENST00000538626.2:n.250C>T
ENST00000538646.5:c.*362C>T ENSP00000443964.1:n.*362C>T
ENST00000540108.1:c.*826C>T ENSP00000445445.1:n.*826C>T
ENST00000541395.5:c.1386C>T ENSP00000443112.1:p.Val462=
ENST00000541924.5:c.*400C>T ENSP00000440361.1:n.*400C>T
ENST00000543255.1:n.430C>T
ENST00000543427.5:c.849C>T ENSP00000439721.2:p.Val283=
ENST00000544413.2:c.1386C>T ENSP00000438804.1:p.Val462=
ENST00000544574.5:c.*149C>T ENSP00000438565.1:n.*149C>T
ENST00000560968.5:c.1203C>T
ENST00000615446.4:c.174C>T ENSP00000483994.1:p.Val58=
ENST00000617366.4:c.587-84C>T ENSP00000481967.1:n.587-84C>T
NM_000545.5:c.1386C>T , LRG_522t1:c.1386C>T NP_000536.5:p.Val462=
NM_000545.6:c.1386C>T NP_000536.5:p.Val462=
NM_001306179.1:c.1386C>T NP_001293108.1:p.Val462=
XM_005253931.2:c.1386C>T XP_005253988.1:p.Val462=
XM_024449168.1:c.1386C>T XP_024304936.1:p.Val462=
NM_000545.8:c.1386C>T MANE Select NP_000536.6:p.Val462=
NM_001306179.2:c.1386C>T NP_001293108.2:p.Val462=