Canonical Allele Identifier: CA386970148
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs1277368019
gnomAD v2: 12-121435359-C-A
gnomAD v4: 12-120997556-C-A
MyVariant Identifiers: chr12:g.121435359C>A (hg19) chr12:g.120997556C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997556C>A , CM000674.2:g.120997556C>A GRCh38
NC_000012.11:g.121435359C>A , CM000674.1:g.121435359C>A GRCh37
NC_000012.10:g.119919742C>A NCBI36
NG_011731.2:g.23811C>A , LRG_522:g.23811C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*139C>A ENSP00000453965.2:n.*139C>A
ENST00000257555.11:c.1392C>A MANE Select ENSP00000257555.5:p.Phe464Leu
ENST00000257555.10:c.1392C>A ENSP00000257555.4:p.Phe464Leu
ENST00000400024.6:c.1392C>A ENSP00000476181.1:p.Phe464Leu
ENST00000402929.5:n.2258C>A
ENST00000535955.5:n.108C>A
ENST00000538626.2:n.256C>A
ENST00000538646.5:c.*368C>A ENSP00000443964.1:n.*368C>A
ENST00000540108.1:c.*832C>A ENSP00000445445.1:n.*832C>A
ENST00000541395.5:c.1392C>A ENSP00000443112.1:p.Phe464Leu
ENST00000541924.5:c.*406C>A ENSP00000440361.1:n.*406C>A
ENST00000543255.1:n.436C>A
ENST00000543427.5:c.855C>A ENSP00000439721.2:p.Phe285Leu
ENST00000544413.2:c.1392C>A ENSP00000438804.1:p.Phe464Leu
ENST00000544574.5:c.*155C>A ENSP00000438565.1:n.*155C>A
ENST00000560968.5:c.1209C>A
ENST00000615446.4:c.180C>A ENSP00000483994.1:p.Phe60Leu
ENST00000617366.4:c.587-78C>A ENSP00000481967.1:n.587-78C>A
NM_000545.5:c.1392C>A , LRG_522t1:c.1392C>A NP_000536.5:p.Phe464Leu
NM_000545.6:c.1392C>A NP_000536.5:p.Phe464Leu
NM_001306179.1:c.1392C>A NP_001293108.1:p.Phe464Leu
XM_005253931.2:c.1392C>A XP_005253988.1:p.Phe464Leu
XM_024449168.1:c.1392C>A XP_024304936.1:p.Phe464Leu
NM_000545.8:c.1392C>A MANE Select NP_000536.6:p.Phe464Leu
NM_001306179.2:c.1392C>A NP_001293108.2:p.Phe464Leu
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