Canonical Allele Identifier: CA386970239
Gene: HNF1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121435400C>A (hg19) chr12:g.120997597C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997597C>A , CM000674.2:g.120997597C>A GRCh38
NC_000012.11:g.121435400C>A , CM000674.1:g.121435400C>A GRCh37
NC_000012.10:g.119919783C>A NCBI36
NG_011731.2:g.23852C>A , LRG_522:g.23852C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*180C>A ENSP00000453965.2:n.*180C>A
ENST00000257555.11:c.1433C>A MANE Select ENSP00000257555.5:p.Pro478Gln
ENST00000257555.10:c.1433C>A ENSP00000257555.4:p.Pro478Gln
ENST00000400024.6:c.1433C>A ENSP00000476181.1:p.Pro478Gln
ENST00000402929.5:n.2299C>A
ENST00000535955.5:n.149C>A
ENST00000538626.2:n.297C>A
ENST00000538646.5:c.*409C>A ENSP00000443964.1:n.*409C>A
ENST00000540108.1:c.*873C>A ENSP00000445445.1:n.*873C>A
ENST00000541395.5:c.1433C>A ENSP00000443112.1:p.Pro478Gln
ENST00000541924.5:c.*447C>A ENSP00000440361.1:n.*447C>A
ENST00000543255.1:n.477C>A
ENST00000543427.5:c.896C>A ENSP00000439721.2:p.Pro299Gln
ENST00000544413.2:c.1433C>A ENSP00000438804.1:p.Pro478Gln
ENST00000544574.5:c.*196C>A ENSP00000438565.1:n.*196C>A
ENST00000560968.5:c.1250C>A
ENST00000615446.4:c.221C>A ENSP00000483994.1:p.Pro74Gln
ENST00000617366.4:c.587-37C>A ENSP00000481967.1:n.587-37C>A
NM_000545.5:c.1433C>A , LRG_522t1:c.1433C>A NP_000536.5:p.Pro478Gln
NM_000545.6:c.1433C>A NP_000536.5:p.Pro478Gln
NM_001306179.1:c.1433C>A NP_001293108.1:p.Pro478Gln
XM_005253931.2:c.1433C>A XP_005253988.1:p.Pro478Gln
XM_024449168.1:c.1433C>A XP_024304936.1:p.Pro478Gln
NM_000545.8:c.1433C>A MANE Select NP_000536.6:p.Pro478Gln
NM_001306179.2:c.1433C>A NP_001293108.2:p.Pro478Gln
Search 100 bp 5'
Search 100 bp 3'