Canonical Allele Identifier: CA231160
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 129226
ClinVar RCV Id: RCV000117223 RCV001810423 RCV002319439
dbSNP Id: rs587780356
MyVariant Identifiers: chr12:g.121434350G>A (hg19) chr12:g.120996547G>A (hg38)
ERepo: CA231160/MONDO:0015967/017
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120996547G>A , CM000674.2:g.120996547G>A GRCh38
NC_000012.11:g.121434350G>A , CM000674.1:g.121434350G>A GRCh37
NC_000012.10:g.119918733G>A NCBI36
NG_011731.2:g.22802G>A , LRG_522:g.22802G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.788G>A ENSP00000453965.2:p.Ser263Asn
ENST00000257555.11:c.1114G>A MANE Select ENSP00000257555.5:p.Ala372Thr
ENST00000257555.10:c.1114G>A ENSP00000257555.4:p.Ala372Thr
ENST00000400024.6:c.1114G>A ENSP00000476181.1:p.Ala372Thr
ENST00000402929.5:n.1249G>A
ENST00000535955.5:n.43-944G>A
ENST00000538626.2:n.191-944G>A
ENST00000538646.5:c.*90G>A ENSP00000443964.1:n.*90G>A
ENST00000540108.1:c.*554G>A ENSP00000445445.1:n.*554G>A
ENST00000541395.5:c.1114G>A ENSP00000443112.1:p.Ala372Thr
ENST00000541924.5:c.*128G>A ENSP00000440361.1:n.*128G>A
ENST00000543255.1:n.158G>A
ENST00000543427.5:c.634-57G>A ENSP00000439721.2:n.634-57G>A
ENST00000544413.2:c.1114G>A ENSP00000438804.1:p.Ala372Thr
ENST00000544574.5:c.73-70G>A ENSP00000438565.1:n.73-70G>A
ENST00000560968.5:c.931G>A
ENST00000615446.4:c.-99G>A ENSP00000483994.1:n.-99G>A
ENST00000617366.4:c.587-1087G>A ENSP00000481967.1:n.587-1087G>A
NM_000545.5:c.1114G>A , LRG_522t1:c.1114G>A NP_000536.5:p.Ala372Thr
NM_000545.6:c.1114G>A NP_000536.5:p.Ala372Thr
NM_001306179.1:c.1114G>A NP_001293108.1:p.Ala372Thr
XM_005253931.2:c.1114G>A XP_005253988.1:p.Ala372Thr
XM_024449168.1:c.1114G>A XP_024304936.1:p.Ala372Thr
NM_000545.8:c.1114G>A MANE Select NP_000536.6:p.Ala372Thr
NM_001306179.2:c.1114G>A NP_001293108.2:p.Ala372Thr
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