Canonical Allele Identifier: CA6832032
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2762585
ClinVar RCV Id: RCV003570170
dbSNP Id: rs762446965

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997548G>A , CM000674.2:g.120997548G>A GRCh38
NC_000012.11:g.121435351G>A , CM000674.1:g.121435351G>A GRCh37
NC_000012.10:g.119919734G>A NCBI36
NG_011731.2:g.23803G>A , LRG_522:g.23803G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*131G>A ENSP00000453965.2:n.*131G>A
ENST00000257555.11:c.1384G>A MANE Select ENSP00000257555.5:p.Val462Ile
ENST00000257555.10:c.1384G>A ENSP00000257555.4:p.Val462Ile
ENST00000400024.6:c.1384G>A ENSP00000476181.1:p.Val462Ile
ENST00000402929.5:n.2250G>A
ENST00000535955.5:n.100G>A
ENST00000538626.2:n.248G>A
ENST00000538646.5:c.*360G>A ENSP00000443964.1:n.*360G>A
ENST00000540108.1:c.*824G>A ENSP00000445445.1:n.*824G>A
ENST00000541395.5:c.1384G>A ENSP00000443112.1:p.Val462Ile
ENST00000541924.5:c.*398G>A ENSP00000440361.1:n.*398G>A
ENST00000543255.1:n.428G>A
ENST00000543427.5:c.847G>A ENSP00000439721.2:p.Val283Ile
ENST00000544413.2:c.1384G>A ENSP00000438804.1:p.Val462Ile
ENST00000544574.5:c.*147G>A ENSP00000438565.1:n.*147G>A
ENST00000560968.5:c.1201G>A
ENST00000615446.4:c.172G>A ENSP00000483994.1:p.Val58Ile
ENST00000617366.4:c.587-86G>A ENSP00000481967.1:n.587-86G>A
NM_000545.5:c.1384G>A , LRG_522t1:c.1384G>A NP_000536.5:p.Val462Ile
NM_000545.6:c.1384G>A NP_000536.5:p.Val462Ile
NM_001306179.1:c.1384G>A NP_001293108.1:p.Val462Ile
XM_005253931.2:c.1384G>A XP_005253988.1:p.Val462Ile
XM_024449168.1:c.1384G>A XP_024304936.1:p.Val462Ile
NM_000545.8:c.1384G>A MANE Select NP_000536.6:p.Val462Ile
NM_001306179.2:c.1384G>A NP_001293108.2:p.Val462Ile