Canonical Allele Identifier: CA153087
Gene: HNF1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 129230
dbSNP Id: rs2464196

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997624G>A , CM000674.2:g.120997624G>A GRCh38
NC_000012.11:g.121435427G>A , CM000674.1:g.121435427G>A GRCh37
NC_000012.10:g.119919810G>A NCBI36
NG_011731.2:g.23879G>A , LRG_522:g.23879G>A

Transcript Alleles

HGVS Amino-acid change
NM_000545.5:c.1460G>A , LRG_522t1:c.1460G>A
NM_000545.6:c.1460G>A VV NP_000536.5:p.Ser487Asn
NM_001306179.1:c.1460G>A VV NP_001293108.1:p.Ser487Asn
XM_005253931.2:c.1460G>A XP_005253988.1:p.Ser487Asn
XM_024449168.1:c.1460G>A XP_024304936.1:p.Ser487Asn
ENST00000257555.10:c.1460G>A ENSP00000257555.4:p.Ser487Asn
ENST00000400024.6:c.1460G>A ENSP00000476181.1:p.Ser487Asn
ENST00000402929.5:n.2326G>A
ENST00000535955.5:n.176G>A
ENST00000538626.2:n.324G>A
ENST00000538646.5:c.*436G>A ENSP00000443964.1:p.=
ENST00000540108.1:c.*900G>A ENSP00000445445.1:p.=
ENST00000541395.5:c.1460G>A ENSP00000443112.1:p.Ser487Asn
ENST00000541924.5:c.*474G>A ENSP00000440361.1:p.=
ENST00000543255.1:n.504G>A
ENST00000543427.5:c.923G>A ENSP00000439721.2:p.Ser308Asn
ENST00000544413.2:c.1460G>A ENSP00000438804.1:p.Ser487Asn
ENST00000544574.5:c.*223G>A ENSP00000438565.1:p.=
ENST00000560968.5:n.1277G>A
ENST00000615446.4:c.248G>A ENSP00000483994.1:p.Ser83Asn
ENST00000617366.4:c.587-10G>A ENSP00000481967.1:p.=