Canonical Allele Identifier: CA386970365
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135848162
MyVariant Identifiers: chr12:g.121435451A>G (hg19) chr12:g.120997648A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997648A>G , CM000674.2:g.120997648A>G GRCh38
NC_000012.11:g.121435451A>G , CM000674.1:g.121435451A>G GRCh37
NC_000012.10:g.119919834A>G NCBI36
NG_011731.2:g.23903A>G , LRG_522:g.23903A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*231A>G ENSP00000453965.2:n.*231A>G
ENST00000257555.11:c.1484A>G MANE Select ENSP00000257555.5:p.Gln495Arg
ENST00000257555.10:c.1484A>G ENSP00000257555.4:p.Gln495Arg
ENST00000400024.6:c.1484A>G ENSP00000476181.1:p.Gln495Arg
ENST00000402929.5:n.2350A>G
ENST00000535955.5:n.200A>G
ENST00000538626.2:n.348A>G
ENST00000538646.5:c.*460A>G ENSP00000443964.1:n.*460A>G
ENST00000540108.1:c.*924A>G ENSP00000445445.1:n.*924A>G
ENST00000541395.5:c.1484A>G ENSP00000443112.1:p.Gln495Arg
ENST00000541924.5:c.*498A>G ENSP00000440361.1:n.*498A>G
ENST00000543255.1:n.528A>G
ENST00000543427.5:c.947A>G ENSP00000439721.2:p.Gln316Arg
ENST00000544413.2:c.1484A>G ENSP00000438804.1:p.Gln495Arg
ENST00000544574.5:c.*247A>G ENSP00000438565.1:n.*247A>G
ENST00000560968.5:c.1301A>G
ENST00000615446.4:c.272A>G ENSP00000483994.1:p.Gln91Arg
ENST00000617366.4:c.601A>G ENSP00000481967.1:p.Ser201Gly
NM_000545.5:c.1484A>G , LRG_522t1:c.1484A>G NP_000536.5:p.Gln495Arg
NM_000545.6:c.1484A>G NP_000536.5:p.Gln495Arg
NM_001306179.1:c.1484A>G NP_001293108.1:p.Gln495Arg
XM_005253931.2:c.1484A>G XP_005253988.1:p.Gln495Arg
XM_024449168.1:c.1484A>G XP_024304936.1:p.Gln495Arg
NM_000545.8:c.1484A>G MANE Select NP_000536.6:p.Gln495Arg
NM_001306179.2:c.1484A>G NP_001293108.2:p.Gln495Arg
Search 100 bp 5'
Search 100 bp 3'