Canonical Allele Identifier: CA386960413
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 586792
ClinVar RCV Id: RCV000713793 RCV000722049 RCV001810483 RCV002464295 RCV003928186
dbSNP Id: rs1172328722
gnomAD v4: 12-120988982-G-A
COSMIC: COSM46438
MyVariant Identifiers: chr12:g.121426785G>A (hg19) chr12:g.120988982G>A (hg38)
ERepo: CA386960413/MONDO:0015967/017
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120988982G>A , CM000674.2:g.120988982G>A GRCh38
NC_000012.11:g.121426785G>A , CM000674.1:g.121426785G>A GRCh37
NC_000012.10:g.119911168G>A NCBI36
NG_011731.2:g.15237G>A , LRG_522:g.15237G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000560968.6:c.476G>A ENSP00000453965.2:p.Arg159Gln
ENST00000257555.11:c.476G>A MANE Select ENSP00000257555.5:p.Arg159Gln
ENST00000257555.10:c.476G>A ENSP00000257555.4:p.Arg159Gln
ENST00000400024.6:c.476G>A ENSP00000476181.1:p.Arg159Gln
ENST00000402929.5:n.611G>A
ENST00000535955.5:n.43-8509G>A
ENST00000538626.2:n.191-8509G>A
ENST00000538646.5:c.476G>A ENSP00000443964.1:p.Arg159Gln
ENST00000540108.1:c.327-4538G>A ENSP00000445445.1:n.327-4538G>A
ENST00000541395.5:c.476G>A ENSP00000443112.1:p.Arg159Gln
ENST00000541924.5:c.476G>A ENSP00000440361.1:p.Arg159Gln
ENST00000543427.5:c.476G>A ENSP00000439721.2:p.Arg159Gln
ENST00000544413.2:c.476G>A ENSP00000438804.1:p.Arg159Gln
ENST00000544574.5:c.73-7635G>A ENSP00000438565.1:n.73-7635G>A
ENST00000560968.5:c.619G>A
ENST00000615446.4:c.-257-7280G>A ENSP00000483994.1:n.-257-7280G>A
ENST00000617366.4:c.476G>A ENSP00000481967.1:p.Arg159Gln
NM_000545.5:c.476G>A , LRG_522t1:c.476G>A NP_000536.5:p.Arg159Gln
NM_000545.6:c.476G>A NP_000536.5:p.Arg159Gln
NM_001306179.1:c.476G>A NP_001293108.1:p.Arg159Gln
XM_005253931.2:c.476G>A XP_005253988.1:p.Arg159Gln
XM_024449168.1:c.476G>A XP_024304936.1:p.Arg159Gln
NM_000545.8:c.476G>A MANE Select NP_000536.6:p.Arg159Gln
NM_001306179.2:c.476G>A NP_001293108.2:p.Arg159Gln
Search 100 bp 5'
Search 100 bp 3'