Canonical Allele Identifier: CA386970254
Gene: HNF1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121435408C>A (hg19) chr12:g.120997605C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997605C>A , CM000674.2:g.120997605C>A GRCh38
NC_000012.11:g.121435408C>A , CM000674.1:g.121435408C>A GRCh37
NC_000012.10:g.119919791C>A NCBI36
NG_011731.2:g.23860C>A , LRG_522:g.23860C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*188C>A ENSP00000453965.2:n.*188C>A
ENST00000257555.11:c.1441C>A MANE Select ENSP00000257555.5:p.Gln481Lys
ENST00000257555.10:c.1441C>A ENSP00000257555.4:p.Gln481Lys
ENST00000400024.6:c.1441C>A ENSP00000476181.1:p.Gln481Lys
ENST00000402929.5:n.2307C>A
ENST00000535955.5:n.157C>A
ENST00000538626.2:n.305C>A
ENST00000538646.5:c.*417C>A ENSP00000443964.1:n.*417C>A
ENST00000540108.1:c.*881C>A ENSP00000445445.1:n.*881C>A
ENST00000541395.5:c.1441C>A ENSP00000443112.1:p.Gln481Lys
ENST00000541924.5:c.*455C>A ENSP00000440361.1:n.*455C>A
ENST00000543255.1:n.485C>A
ENST00000543427.5:c.904C>A ENSP00000439721.2:p.Gln302Lys
ENST00000544413.2:c.1441C>A ENSP00000438804.1:p.Gln481Lys
ENST00000544574.5:c.*204C>A ENSP00000438565.1:n.*204C>A
ENST00000560968.5:c.1258C>A
ENST00000615446.4:c.229C>A ENSP00000483994.1:p.Gln77Lys
ENST00000617366.4:c.587-29C>A ENSP00000481967.1:n.587-29C>A
NM_000545.5:c.1441C>A , LRG_522t1:c.1441C>A NP_000536.5:p.Gln481Lys
NM_000545.6:c.1441C>A NP_000536.5:p.Gln481Lys
NM_001306179.1:c.1441C>A NP_001293108.1:p.Gln481Lys
XM_005253931.2:c.1441C>A XP_005253988.1:p.Gln481Lys
XM_024449168.1:c.1441C>A XP_024304936.1:p.Gln481Lys
NM_000545.8:c.1441C>A MANE Select NP_000536.6:p.Gln481Lys
NM_001306179.2:c.1441C>A NP_001293108.2:p.Gln481Lys
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