Canonical Allele Identifier: CA386970362
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 586785
ClinVar RCV Id: RCV000713785 RCV002319569
dbSNP Id: rs1565887211
MyVariant Identifiers: chr12:g.121435450C>T (hg19) chr12:g.120997647C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997647C>T , CM000674.2:g.120997647C>T GRCh38
NC_000012.11:g.121435450C>T , CM000674.1:g.121435450C>T GRCh37
NC_000012.10:g.119919833C>T NCBI36
NG_011731.2:g.23902C>T , LRG_522:g.23902C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*230C>T ENSP00000453965.2:n.*230C>T
ENST00000257555.11:c.1483C>T MANE Select ENSP00000257555.5:p.Gln495Ter
ENST00000257555.10:c.1483C>T ENSP00000257555.4:p.Gln495Ter
ENST00000400024.6:c.1483C>T ENSP00000476181.1:p.Gln495Ter
ENST00000402929.5:n.2349C>T
ENST00000535955.5:n.199C>T
ENST00000538626.2:n.347C>T
ENST00000538646.5:c.*459C>T ENSP00000443964.1:n.*459C>T
ENST00000540108.1:c.*923C>T ENSP00000445445.1:n.*923C>T
ENST00000541395.5:c.1483C>T ENSP00000443112.1:p.Gln495Ter
ENST00000541924.5:c.*497C>T ENSP00000440361.1:n.*497C>T
ENST00000543255.1:n.527C>T
ENST00000543427.5:c.946C>T ENSP00000439721.2:p.Gln316Ter
ENST00000544413.2:c.1483C>T ENSP00000438804.1:p.Gln495Ter
ENST00000544574.5:c.*246C>T ENSP00000438565.1:n.*246C>T
ENST00000560968.5:c.1300C>T
ENST00000615446.4:c.271C>T ENSP00000483994.1:p.Gln91Ter
ENST00000617366.4:c.600C>T ENSP00000481967.1:p.Leu200=
NM_000545.5:c.1483C>T , LRG_522t1:c.1483C>T NP_000536.5:p.Gln495Ter
NM_000545.6:c.1483C>T NP_000536.5:p.Gln495Ter
NM_001306179.1:c.1483C>T NP_001293108.1:p.Gln495Ter
XM_005253931.2:c.1483C>T XP_005253988.1:p.Gln495Ter
XM_024449168.1:c.1483C>T XP_024304936.1:p.Gln495Ter
NM_000545.8:c.1483C>T MANE Select NP_000536.6:p.Gln495Ter
NM_001306179.2:c.1483C>T NP_001293108.2:p.Gln495Ter
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