Canonical Allele Identifier: CA6831893

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 972763
• ClinVar RCV Id: RCV001248940 ; RCV002319683 ; RCV002480859
• dbSNP Id: rs751761766
• ExAC: 12:121434071 G / A
• gnomAD v2: 12-121434071-G-A
• gnomAD v3: 12-120996268-G-A
• gnomAD v4: 12-120996268-G-A
• MyVariant Identifiers: chr12:g.121434071G>A (hg19) ; chr12:g.120996268G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996268G>A , CM000674.2:g.120996268G>A	GRCh38
NC_000012.11:g.121434071G>A , CM000674.1:g.121434071G>A	GRCh37
NC_000012.10:g.119918454G>A	NCBI36
NG_011731.2:g.22523G>A , LRG_522:g.22523G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.751-115G>A	ENSP00000453965.2:n.751-115G>A
ENST00000257555.11:c.962G>A MANE Select	ENSP00000257555.5:p.Arg321His
ENST00000257555.10:c.962G>A	ENSP00000257555.4:p.Arg321His
ENST00000400024.6:c.962G>A	ENSP00000476181.1:p.Arg321His
ENST00000402929.5:n.1097G>A
ENST00000535955.5:n.43-1223G>A
ENST00000538626.2:n.191-1223G>A
ENST00000538646.5:c.775G>A	ENSP00000443964.1:p.Ala259Thr
ENST00000540108.1:c.*402G>A	ENSP00000445445.1:n.*402G>A
ENST00000541395.5:c.962G>A	ENSP00000443112.1:p.Arg321His
ENST00000541924.5:c.720G>A	ENSP00000440361.1:p.Ala240=
ENST00000543427.5:c.634-336G>A	ENSP00000439721.2:n.634-336G>A
ENST00000544413.2:c.962G>A	ENSP00000438804.1:p.Arg321His
ENST00000544574.5:c.73-349G>A	ENSP00000438565.1:n.73-349G>A
ENST00000560968.5:c.894-115G>A
ENST00000615446.4:c.-251G>A	ENSP00000483994.1:n.-251G>A
ENST00000617366.4:c.587-1366G>A	ENSP00000481967.1:n.587-1366G>A
NM_000545.5:c.962G>A , LRG_522t1:c.962G>A	NP_000536.5:p.Arg321His
NM_000545.6:c.962G>A	NP_000536.5:p.Arg321His
NM_001306179.1:c.962G>A	NP_001293108.1:p.Arg321His
XM_005253931.2:c.962G>A	XP_005253988.1:p.Arg321His
XM_024449168.1:c.962G>A	XP_024304936.1:p.Arg321His
NM_000545.8:c.962G>A MANE Select	NP_000536.6:p.Arg321His
NM_001306179.2:c.962G>A	NP_001293108.2:p.Arg321His