Canonical Allele Identifier: CA482164374

Gene: HNF1A

Linked Data

• dbSNP Id: rs1483203824
• MyVariant Identifiers: chr12:g.121434099T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996296T>G , CM000674.2:g.120996296T>G	GRCh38
NC_000012.11:g.121434099T>G , CM000674.1:g.121434099T>G	GRCh37
NC_000012.10:g.119918482T>G	NCBI36
NG_011731.2:g.22551T>G , LRG_522:g.22551T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.751-87T>G	ENSP00000453965.2:n.751-87T>G
ENST00000257555.11:c.990T>G MANE Select	ENSP00000257555.5:p.Thr330=
ENST00000257555.10:c.990T>G	ENSP00000257555.4:p.Thr330=
ENST00000400024.6:c.990T>G	ENSP00000476181.1:p.Thr330=
ENST00000402929.5:n.1125T>G
ENST00000535955.5:n.43-1195T>G
ENST00000538626.2:n.191-1195T>G
ENST00000538646.5:c.803T>G	ENSP00000443964.1:p.Leu268Arg
ENST00000540108.1:c.*430T>G	ENSP00000445445.1:n.*430T>G
ENST00000541395.5:c.990T>G	ENSP00000443112.1:p.Thr330=
ENST00000541924.5:c.*4T>G	ENSP00000440361.1:n.*4T>G
ENST00000543427.5:c.634-308T>G	ENSP00000439721.2:n.634-308T>G
ENST00000544413.2:c.990T>G	ENSP00000438804.1:p.Thr330=
ENST00000544574.5:c.73-321T>G	ENSP00000438565.1:n.73-321T>G
ENST00000560968.5:c.894-87T>G
ENST00000615446.4:c.-223T>G	ENSP00000483994.1:n.-223T>G
ENST00000617366.4:c.587-1338T>G	ENSP00000481967.1:n.587-1338T>G
NM_000545.5:c.990T>G , LRG_522t1:c.990T>G	NP_000536.5:p.Thr330=
NM_000545.6:c.990T>G	NP_000536.5:p.Thr330=
NM_001306179.1:c.990T>G	NP_001293108.1:p.Thr330=
XM_005253931.2:c.990T>G	XP_005253988.1:p.Thr330=
XM_024449168.1:c.990T>G	XP_024304936.1:p.Thr330=
NM_000545.8:c.990T>G MANE Select	NP_000536.6:p.Thr330=
NM_001306179.2:c.990T>G	NP_001293108.2:p.Thr330=