Canonical Allele Identifier: CA124460

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 14931
• ClinVar RCV Id: RCV000016068 ; RCV000255916 ; RCV000445525 ; RCV002051786 ; RCV002288493
• dbSNP Id: rs137853238
• COSMIC: COSM24933
• MyVariant Identifiers: chr12:g.121432068G>A (hg19) ; chr12:g.120994265G>A (hg38)
• PubMed: PMID:9032114 ; PMID:9313763 ; PMID:10585442 ; PMID:11463573 ; PMID:15726414 ; PMID:19150152
• ERepo: CA124460/MONDO:0015967/017

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120994265G>A , CM000674.2:g.120994265G>A	GRCh38
NC_000012.11:g.121432068G>A , CM000674.1:g.121432068G>A	GRCh37
NC_000012.10:g.119916451G>A	NCBI36
NG_011731.2:g.20520G>A , LRG_522:g.20520G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.750+65G>A	ENSP00000453965.2:n.750+65G>A
ENST00000257555.11:c.815G>A MANE Select	ENSP00000257555.5:p.Arg272His
ENST00000257555.10:c.815G>A	ENSP00000257555.4:p.Arg272His
ENST00000400024.6:c.815G>A	ENSP00000476181.1:p.Arg272His
ENST00000402929.5:n.950G>A
ENST00000535955.5:n.43-3226G>A
ENST00000538626.2:n.191-3226G>A
ENST00000538646.5:c.628G>A	ENSP00000443964.1:p.Ala210Thr
ENST00000540108.1:c.*255G>A	ENSP00000445445.1:n.*255G>A
ENST00000541395.5:c.815G>A	ENSP00000443112.1:p.Arg272His
ENST00000541924.5:c.713+559G>A	ENSP00000440361.1:n.713+559G>A
ENST00000543427.5:c.633+639G>A	ENSP00000439721.2:n.633+639G>A
ENST00000544413.2:c.815G>A	ENSP00000438804.1:p.Arg272His
ENST00000544574.5:c.73-2352G>A	ENSP00000438565.1:n.73-2352G>A
ENST00000560968.5:c.893+65G>A
ENST00000615446.4:c.-257-1997G>A	ENSP00000483994.1:n.-257-1997G>A
ENST00000617366.4:c.586+686G>A	ENSP00000481967.1:n.586+686G>A
NM_000545.5:c.815G>A , LRG_522t1:c.815G>A	NP_000536.5:p.Arg272His
NM_000545.6:c.815G>A	NP_000536.5:p.Arg272His
NM_001306179.1:c.815G>A	NP_001293108.1:p.Arg272His
XM_005253931.2:c.815G>A	XP_005253988.1:p.Arg272His
XM_024449168.1:c.815G>A	XP_024304936.1:p.Arg272His
NM_000545.8:c.815G>A MANE Select	NP_000536.6:p.Arg272His
NM_001306179.2:c.815G>A	NP_001293108.2:p.Arg272His