Canonical Allele Identifier: CA386970198
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135847860
MyVariant Identifiers: chr12:g.121435383C>G (hg19) chr12:g.120997580C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997580C>G , CM000674.2:g.120997580C>G GRCh38
NC_000012.11:g.121435383C>G , CM000674.1:g.121435383C>G GRCh37
NC_000012.10:g.119919766C>G NCBI36
NG_011731.2:g.23835C>G , LRG_522:g.23835C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*163C>G ENSP00000453965.2:n.*163C>G
ENST00000257555.11:c.1416C>G MANE Select ENSP00000257555.5:p.Tyr472Ter
ENST00000257555.10:c.1416C>G ENSP00000257555.4:p.Tyr472Ter
ENST00000400024.6:c.1416C>G ENSP00000476181.1:p.Tyr472Ter
ENST00000402929.5:n.2282C>G
ENST00000535955.5:n.132C>G
ENST00000538626.2:n.280C>G
ENST00000538646.5:c.*392C>G ENSP00000443964.1:n.*392C>G
ENST00000540108.1:c.*856C>G ENSP00000445445.1:n.*856C>G
ENST00000541395.5:c.1416C>G ENSP00000443112.1:p.Tyr472Ter
ENST00000541924.5:c.*430C>G ENSP00000440361.1:n.*430C>G
ENST00000543255.1:n.460C>G
ENST00000543427.5:c.879C>G ENSP00000439721.2:p.Tyr293Ter
ENST00000544413.2:c.1416C>G ENSP00000438804.1:p.Tyr472Ter
ENST00000544574.5:c.*179C>G ENSP00000438565.1:n.*179C>G
ENST00000560968.5:c.1233C>G
ENST00000615446.4:c.204C>G ENSP00000483994.1:p.Tyr68Ter
ENST00000617366.4:c.587-54C>G ENSP00000481967.1:n.587-54C>G
NM_000545.5:c.1416C>G , LRG_522t1:c.1416C>G NP_000536.5:p.Tyr472Ter
NM_000545.6:c.1416C>G NP_000536.5:p.Tyr472Ter
NM_001306179.1:c.1416C>G NP_001293108.1:p.Tyr472Ter
XM_005253931.2:c.1416C>G XP_005253988.1:p.Tyr472Ter
XM_024449168.1:c.1416C>G XP_024304936.1:p.Tyr472Ter
NM_000545.8:c.1416C>G MANE Select NP_000536.6:p.Tyr472Ter
NM_001306179.2:c.1416C>G NP_001293108.2:p.Tyr472Ter
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