Canonical Allele Identifier: CA386970011
Gene: HNF1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121435297C>G (hg19) chr12:g.120997494C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997494C>G , CM000674.2:g.120997494C>G GRCh38
NC_000012.11:g.121435297C>G , CM000674.1:g.121435297C>G GRCh37
NC_000012.10:g.119919680C>G NCBI36
NG_011731.2:g.23749C>G , LRG_522:g.23749C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*77C>G ENSP00000453965.2:n.*77C>G
ENST00000257555.11:c.1330C>G MANE Select ENSP00000257555.5:p.Gln444Glu
ENST00000257555.10:c.1330C>G ENSP00000257555.4:p.Gln444Glu
ENST00000400024.6:c.1330C>G ENSP00000476181.1:p.Gln444Glu
ENST00000402929.5:n.2196C>G
ENST00000535955.5:n.46C>G
ENST00000538626.2:n.194C>G
ENST00000538646.5:c.*306C>G ENSP00000443964.1:n.*306C>G
ENST00000540108.1:c.*770C>G ENSP00000445445.1:n.*770C>G
ENST00000541395.5:c.1330C>G ENSP00000443112.1:p.Gln444Glu
ENST00000541924.5:c.*344C>G ENSP00000440361.1:n.*344C>G
ENST00000543255.1:n.374C>G
ENST00000543427.5:c.793C>G ENSP00000439721.2:p.Gln265Glu
ENST00000544413.2:c.1330C>G ENSP00000438804.1:p.Gln444Glu
ENST00000544574.5:c.*93C>G ENSP00000438565.1:n.*93C>G
ENST00000560968.5:c.1147C>G
ENST00000615446.4:c.118C>G ENSP00000483994.1:p.Gln40Glu
ENST00000617366.4:c.587-140C>G ENSP00000481967.1:n.587-140C>G
NM_000545.5:c.1330C>G , LRG_522t1:c.1330C>G NP_000536.5:p.Gln444Glu
NM_000545.6:c.1330C>G NP_000536.5:p.Gln444Glu
NM_001306179.1:c.1330C>G NP_001293108.1:p.Gln444Glu
XM_005253931.2:c.1330C>G XP_005253988.1:p.Gln444Glu
XM_024449168.1:c.1330C>G XP_024304936.1:p.Gln444Glu
NM_000545.8:c.1330C>G MANE Select NP_000536.6:p.Gln444Glu
NM_001306179.2:c.1330C>G NP_001293108.2:p.Gln444Glu
Search 100 bp 5'
Search 100 bp 3'