Canonical Allele Identifier: CA16609272

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 393456
• ClinVar RCV Id: RCV000445449 ; RCV002463447
• dbSNP Id: rs1057524908
• MyVariant Identifiers: chr12:g.121431490dupC (hg19) ; chr12:g.120993687dupC (hg38)
• ERepo: CA16609272/MONDO:0015967/017
• PubMed: PMID:11058894 ; PMID:11463573 ; PMID:18003757 ; PMID:23348805

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120993687dup , CM000674.2:g.120993687dup	GRCh38
NC_000012.11:g.121431490dup , CM000674.1:g.121431490dup	GRCh37
NC_000012.10:g.119915873dup	NCBI36
NG_011731.2:g.19942dup , LRG_522:g.19942dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.694dup	ENSP00000453965.2:p.Leu232ProfsTer7
ENST00000257555.11:c.694dup MANE Select	ENSP00000257555.5:p.Leu232ProfsTer7
ENST00000257555.10:c.694dup	ENSP00000257555.4:p.Leu232ProfsTer7
ENST00000400024.6:c.694dup	ENSP00000476181.1:p.Leu232ProfsTer7
ENST00000402929.5:n.829dup
ENST00000535955.5:n.43-3804dup
ENST00000538626.2:n.191-3804dup
ENST00000538646.5:c.527-477dup	ENSP00000443964.1:n.527-477dup
ENST00000540108.1:c.*134dup	ENSP00000445445.1:n.*134dup
ENST00000541395.5:c.694dup	ENSP00000443112.1:p.Leu232ProfsTer7
ENST00000541924.5:c.694dup	ENSP00000440361.1:p.Leu232ProfsTer7
ENST00000543427.5:c.633+61dup	ENSP00000439721.2:n.633+61dup
ENST00000544413.2:c.694dup	ENSP00000438804.1:p.Leu232ProfsTer7
ENST00000544574.5:c.73-2930dup	ENSP00000438565.1:n.73-2930dup
ENST00000560968.5:c.837dup
ENST00000615446.4:c.-257-2575dup	ENSP00000483994.1:n.-257-2575dup
ENST00000617366.4:c.586+108dup	ENSP00000481967.1:n.586+108dup
NM_000545.5:c.694dup , LRG_522t1:c.694dup	NP_000536.5:p.Leu232ProfsTer7
NM_000545.6:c.694dup	NP_000536.5:p.Leu232ProfsTer7
NM_001306179.1:c.694dup	NP_001293108.1:p.Leu232ProfsTer7
XM_005253931.2:c.694dup	XP_005253988.1:p.Leu232ProfsTer7
XM_024449168.1:c.694dup	XP_024304936.1:p.Leu232ProfsTer7
NM_000545.8:c.694dup MANE Select	NP_000536.6:p.Leu232ProfsTer7
NM_001306179.2:c.694dup	NP_001293108.2:p.Leu232ProfsTer7