Canonical Allele Identifier: CA153091

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 129232
• ClinVar RCV Id: RCV000117229 ; RCV000342799 ; RCV001521820 ; RCV002226669 ; RCV002399484 ; RCV003315671
• dbSNP Id: rs55834942
• ExAC: 12:121437114 G / A
• gnomAD v2: 12-121437114-G-A
• gnomAD v3: 12-120999311-G-A
• gnomAD v4: 12-120999311-G-A
• MyVariant Identifiers: chr12:g.121437114G>A (hg19) ; chr12:g.120999311G>A (hg38)
• PubMed: PMID:8945470 ; PMID:9112026 ; PMID:9604876 ; PMID:10634407 ; PMID:12627330 ; PMID:15928245 ; PMID:16963153 ; PMID:17440016 ; PMID:17573900 ; PMID:17937063

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120999311G>A , CM000674.2:g.120999311G>A	GRCh38
NC_000012.11:g.121437114G>A , CM000674.1:g.121437114G>A	GRCh37
NC_000012.10:g.119921497G>A	NCBI36
NG_011731.2:g.25566G>A , LRG_522:g.25566G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.*292G>A	ENSP00000453965.2:n.*292G>A
ENST00000257555.11:c.1545G>A MANE Select	ENSP00000257555.5:p.Thr515=
ENST00000257555.10:c.1545G>A	ENSP00000257555.4:p.Thr515=
ENST00000540108.1:c.*985G>A	ENSP00000445445.1:n.*985G>A
ENST00000541395.5:c.1545G>A	ENSP00000443112.1:p.Thr515=
ENST00000543427.5:c.1008G>A	ENSP00000439721.2:p.Thr336=
ENST00000544413.2:c.1545G>A	ENSP00000438804.1:p.Thr515=
ENST00000560968.5:c.1362G>A
ENST00000615446.4:c.333G>A	ENSP00000483994.1:p.Thr111=
ENST00000617366.4:c.662G>A	ENSP00000481967.1:p.Arg221Gln
NM_000545.5:c.1545G>A , LRG_522t1:c.1545G>A	NP_000536.5:p.Thr515=
NM_000545.6:c.1545G>A	NP_000536.5:p.Thr515=
NM_001306179.1:c.1545G>A	NP_001293108.1:p.Thr515=
XM_005253931.2:c.1545G>A	XP_005253988.1:p.Thr515=
XM_024449168.1:c.1545G>A	XP_024304936.1:p.Thr515=
NM_000545.8:c.1545G>A MANE Select	NP_000536.6:p.Thr515=
NM_001306179.2:c.1545G>A	NP_001293108.2:p.Thr515=