Canonical Allele Identifier: CA153103
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 129236
ClinVar RCV Id: RCV000117234 RCV000331151 RCV001517092 RCV002226671 RCV003315674 RCV002444570
dbSNP Id: rs56348580
ExAC: 12:121432117 G / C
gnomAD v2: 12-121432117-G-C
gnomAD v3: 12-120994314-G-C
gnomAD v4: 12-120994314-G-C
MyVariant Identifiers: chr12:g.121432117G>C (hg19) chr12:g.121432117_121432118delinsCC (hg19) chr12:g.120994314G>C (hg38)
PubMed: PMID:8945470 PMID:9112026 PMID:9604876 PMID:10634407 PMID:12627330 PMID:15883474 PMID:15928245 PMID:16963153 PMID:17407072 PMID:17440016 PMID:17573900 PMID:17937063 PMID:18513305 PMID:18811724 PMID:20132997 PMID:21224407
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994314G>C , CM000674.2:g.120994314G>C GRCh38
NC_000012.11:g.121432117G>C , CM000674.1:g.121432117G>C GRCh37
NC_000012.10:g.119916500G>C NCBI36
NG_011731.2:g.20569G>C , LRG_522:g.20569G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+114G>C ENSP00000453965.2:n.750+114G>C
ENST00000257555.11:c.864G>C MANE Select ENSP00000257555.5:p.Gly288=
ENST00000257555.10:c.864G>C ENSP00000257555.4:p.Gly288=
ENST00000400024.6:c.864G>C ENSP00000476181.1:p.Gly288=
ENST00000402929.5:n.999G>C
ENST00000535955.5:n.43-3177G>C
ENST00000538626.2:n.191-3177G>C
ENST00000538646.5:c.677G>C ENSP00000443964.1:p.Gly226Ala
ENST00000540108.1:c.*304G>C ENSP00000445445.1:n.*304G>C
ENST00000541395.5:c.864G>C ENSP00000443112.1:p.Gly288=
ENST00000541924.5:c.713+608G>C ENSP00000440361.1:n.713+608G>C
ENST00000543427.5:c.633+688G>C ENSP00000439721.2:n.633+688G>C
ENST00000544413.2:c.864G>C ENSP00000438804.1:p.Gly288=
ENST00000544574.5:c.73-2303G>C ENSP00000438565.1:n.73-2303G>C
ENST00000560968.5:c.893+114G>C
ENST00000615446.4:c.-257-1948G>C ENSP00000483994.1:n.-257-1948G>C
ENST00000617366.4:c.586+735G>C ENSP00000481967.1:n.586+735G>C
NM_000545.5:c.864G>C , LRG_522t1:c.864G>C NP_000536.5:p.Gly288=
NM_000545.6:c.864G>C NP_000536.5:p.Gly288=
NM_001306179.1:c.864G>C NP_001293108.1:p.Gly288=
XM_005253931.2:c.864G>C XP_005253988.1:p.Gly288=
XM_024449168.1:c.864G>C XP_024304936.1:p.Gly288=
NM_000545.8:c.864G>C MANE Select NP_000536.6:p.Gly288=
NM_001306179.2:c.864G>C NP_001293108.2:p.Gly288=
Search 100 bp 5'
Search 100 bp 3'