Canonical Allele Identifier: CA160004
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 134506
ClinVar RCV Id: RCV000121190 RCV002055338 RCV002326823
dbSNP Id: rs587778394
gnomAD v4: 12-120978841-G-A
MyVariant Identifiers: chr12:g.121416644G>A (hg19) chr12:g.120978841G>A (hg38)
ERepo: CA160004/MONDO:0015967/017
PubMed: PMID:24728327
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120978841G>A , CM000674.2:g.120978841G>A GRCh38
NC_000012.11:g.121416644G>A , CM000674.1:g.121416644G>A GRCh37
NC_000012.10:g.119901027G>A NCBI36
NG_011731.2:g.5096G>A , LRG_522:g.5096G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.73G>A ENSP00000453965.2:p.Ala25Thr
ENST00000257555.11:c.73G>A MANE Select ENSP00000257555.5:p.Ala25Thr
ENST00000257555.10:c.73G>A ENSP00000257555.4:p.Ala25Thr
ENST00000400024.6:c.73G>A ENSP00000476181.1:p.Ala25Thr
ENST00000402929.5:n.208G>A
ENST00000535955.5:n.42+149G>A
ENST00000538626.2:n.190+1G>A
ENST00000538646.5:c.73G>A ENSP00000443964.1:p.Ala25Thr
ENST00000540108.1:c.73G>A ENSP00000445445.1:p.Ala25Thr
ENST00000541395.5:c.73G>A ENSP00000443112.1:p.Ala25Thr
ENST00000541924.5:c.73G>A ENSP00000440361.1:p.Ala25Thr
ENST00000543427.5:c.73G>A ENSP00000439721.2:p.Ala25Thr
ENST00000544413.2:c.73G>A ENSP00000438804.1:p.Ala25Thr
ENST00000544574.5:c.72+1G>A ENSP00000438565.1:n.72+1G>A
ENST00000560968.5:c.216G>A
ENST00000615446.4:c.-258+130G>A ENSP00000483994.1:n.-258+130G>A
ENST00000617366.4:c.73G>A ENSP00000481967.1:p.Ala25Thr
NM_000545.5:c.73G>A , LRG_522t1:c.73G>A NP_000536.5:p.Ala25Thr
NM_000545.6:c.73G>A NP_000536.5:p.Ala25Thr
NM_001306179.1:c.73G>A NP_001293108.1:p.Ala25Thr
XM_005253931.2:c.73G>A XP_005253988.1:p.Ala25Thr
XM_024449168.1:c.73G>A XP_024304936.1:p.Ala25Thr
NM_000545.8:c.73G>A MANE Select NP_000536.6:p.Ala25Thr
NM_001306179.2:c.73G>A NP_001293108.2:p.Ala25Thr
Search 100 bp 5'
Search 100 bp 3'