Canonical Allele Identifier: CA386970178
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135847815
gnomAD v4: 12-120997571-C-A
MyVariant Identifiers: chr12:g.121435374C>A (hg19) chr12:g.120997571C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997571C>A , CM000674.2:g.120997571C>A GRCh38
NC_000012.11:g.121435374C>A , CM000674.1:g.121435374C>A GRCh37
NC_000012.10:g.119919757C>A NCBI36
NG_011731.2:g.23826C>A , LRG_522:g.23826C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*154C>A ENSP00000453965.2:n.*154C>A
ENST00000257555.11:c.1407C>A MANE Select ENSP00000257555.5:p.His469Gln
ENST00000257555.10:c.1407C>A ENSP00000257555.4:p.His469Gln
ENST00000400024.6:c.1407C>A ENSP00000476181.1:p.His469Gln
ENST00000402929.5:n.2273C>A
ENST00000535955.5:n.123C>A
ENST00000538626.2:n.271C>A
ENST00000538646.5:c.*383C>A ENSP00000443964.1:n.*383C>A
ENST00000540108.1:c.*847C>A ENSP00000445445.1:n.*847C>A
ENST00000541395.5:c.1407C>A ENSP00000443112.1:p.His469Gln
ENST00000541924.5:c.*421C>A ENSP00000440361.1:n.*421C>A
ENST00000543255.1:n.451C>A
ENST00000543427.5:c.870C>A ENSP00000439721.2:p.His290Gln
ENST00000544413.2:c.1407C>A ENSP00000438804.1:p.His469Gln
ENST00000544574.5:c.*170C>A ENSP00000438565.1:n.*170C>A
ENST00000560968.5:c.1224C>A
ENST00000615446.4:c.195C>A ENSP00000483994.1:p.His65Gln
ENST00000617366.4:c.587-63C>A ENSP00000481967.1:n.587-63C>A
NM_000545.5:c.1407C>A , LRG_522t1:c.1407C>A NP_000536.5:p.His469Gln
NM_000545.6:c.1407C>A NP_000536.5:p.His469Gln
NM_001306179.1:c.1407C>A NP_001293108.1:p.His469Gln
XM_005253931.2:c.1407C>A XP_005253988.1:p.His469Gln
XM_024449168.1:c.1407C>A XP_024304936.1:p.His469Gln
NM_000545.8:c.1407C>A MANE Select NP_000536.6:p.His469Gln
NM_001306179.2:c.1407C>A NP_001293108.2:p.His469Gln
Search 100 bp 5'
Search 100 bp 3'