Canonical Allele Identifier: CA913203569

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 1676709
• ClinVar RCV Id: RCV002222106
• dbSNP Id: rs2135839892
• ERepo: CA913203569/MONDO:0015967/017

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120993689dup , CM000674.2:g.120993689dup	GRCh38
NC_000012.11:g.121431492dup , CM000674.1:g.121431492dup	GRCh37
NC_000012.10:g.119915875dup	NCBI36
NG_011731.2:g.19944dup , LRG_522:g.19944dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.696dup	ENSP00000453965.2:p.Val233SerfsTer6
ENST00000257555.11:c.696dup MANE Select	ENSP00000257555.5:p.Val233SerfsTer6
ENST00000257555.10:c.696dup	ENSP00000257555.4:p.Val233SerfsTer6
ENST00000400024.6:c.696dup	ENSP00000476181.1:p.Val233SerfsTer6
ENST00000402929.5:n.831dup
ENST00000535955.5:n.43-3802dup
ENST00000538626.2:n.191-3802dup
ENST00000538646.5:c.527-475dup	ENSP00000443964.1:n.527-475dup
ENST00000540108.1:c.*136dup	ENSP00000445445.1:n.*136dup
ENST00000541395.5:c.696dup	ENSP00000443112.1:p.Val233SerfsTer6
ENST00000541924.5:c.696dup	ENSP00000440361.1:p.Val233SerfsTer6
ENST00000543427.5:c.633+63dup	ENSP00000439721.2:n.633+63dup
ENST00000544413.2:c.696dup	ENSP00000438804.1:p.Val233SerfsTer6
ENST00000544574.5:c.73-2928dup	ENSP00000438565.1:n.73-2928dup
ENST00000560968.5:c.839dup
ENST00000615446.4:c.-257-2573dup	ENSP00000483994.1:n.-257-2573dup
ENST00000617366.4:c.586+110dup	ENSP00000481967.1:n.586+110dup
NM_000545.5:c.696dup , LRG_522t1:c.696dup	NP_000536.5:p.Val233SerfsTer6
NM_000545.6:c.696dup	NP_000536.5:p.Val233SerfsTer6
NM_001306179.1:c.696dup	NP_001293108.1:p.Val233SerfsTer6
XM_005253931.2:c.696dup	XP_005253988.1:p.Val233SerfsTer6
XM_024449168.1:c.696dup	XP_024304936.1:p.Val233SerfsTer6
NM_000545.8:c.696dup MANE Select	NP_000536.6:p.Val233SerfsTer6
NM_001306179.2:c.696dup	NP_001293108.2:p.Val233SerfsTer6