Canonical Allele Identifier: CA482163969
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs1876931889
MyVariant Identifiers: chr12:g.121431348G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993545G>A , CM000674.2:g.120993545G>A GRCh38
NC_000012.11:g.121431348G>A , CM000674.1:g.121431348G>A GRCh37
NC_000012.10:g.119915731G>A NCBI36
NG_011731.2:g.19800G>A , LRG_522:g.19800G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.552G>A ENSP00000453965.2:p.Gly184=
ENST00000257555.11:c.552G>A MANE Select ENSP00000257555.5:p.Gly184=
ENST00000257555.10:c.552G>A ENSP00000257555.4:p.Gly184=
ENST00000400024.6:c.552G>A ENSP00000476181.1:p.Gly184=
ENST00000402929.5:n.687G>A
ENST00000535955.5:n.43-3946G>A
ENST00000538626.2:n.191-3946G>A
ENST00000538646.5:c.527-619G>A ENSP00000443964.1:n.527-619G>A
ENST00000540108.1:c.352G>A ENSP00000445445.1:p.Ala118Thr
ENST00000541395.5:c.552G>A ENSP00000443112.1:p.Gly184=
ENST00000541924.5:c.552G>A ENSP00000440361.1:p.Gly184=
ENST00000543427.5:c.552G>A ENSP00000439721.2:p.Gly184=
ENST00000544413.2:c.552G>A ENSP00000438804.1:p.Gly184=
ENST00000544574.5:c.73-3072G>A ENSP00000438565.1:n.73-3072G>A
ENST00000560968.5:c.695G>A
ENST00000615446.4:c.-257-2717G>A ENSP00000483994.1:n.-257-2717G>A
ENST00000617366.4:c.552G>A ENSP00000481967.1:p.Gly184=
NM_000545.5:c.552G>A , LRG_522t1:c.552G>A NP_000536.5:p.Gly184=
NM_000545.6:c.552G>A NP_000536.5:p.Gly184=
NM_001306179.1:c.552G>A NP_001293108.1:p.Gly184=
XM_005253931.2:c.552G>A XP_005253988.1:p.Gly184=
XM_024449168.1:c.552G>A XP_024304936.1:p.Gly184=
NM_000545.8:c.552G>A MANE Select NP_000536.6:p.Gly184=
NM_001306179.2:c.552G>A NP_001293108.2:p.Gly184=