Canonical Allele Identifier: CA386970219
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs193922580
gnomAD v3: 12-120997588-C-G
gnomAD v4: 12-120997588-C-G
MyVariant Identifiers: chr12:g.121435391C>G (hg19) chr12:g.120997588C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997588C>G , CM000674.2:g.120997588C>G GRCh38
NC_000012.11:g.121435391C>G , CM000674.1:g.121435391C>G GRCh37
NC_000012.10:g.119919774C>G NCBI36
NG_011731.2:g.23843C>G , LRG_522:g.23843C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*171C>G ENSP00000453965.2:n.*171C>G
ENST00000257555.11:c.1424C>G MANE Select ENSP00000257555.5:p.Pro475Arg
ENST00000257555.10:c.1424C>G ENSP00000257555.4:p.Pro475Arg
ENST00000400024.6:c.1424C>G ENSP00000476181.1:p.Pro475Arg
ENST00000402929.5:n.2290C>G
ENST00000535955.5:n.140C>G
ENST00000538626.2:n.288C>G
ENST00000538646.5:c.*400C>G ENSP00000443964.1:n.*400C>G
ENST00000540108.1:c.*864C>G ENSP00000445445.1:n.*864C>G
ENST00000541395.5:c.1424C>G ENSP00000443112.1:p.Pro475Arg
ENST00000541924.5:c.*438C>G ENSP00000440361.1:n.*438C>G
ENST00000543255.1:n.468C>G
ENST00000543427.5:c.887C>G ENSP00000439721.2:p.Pro296Arg
ENST00000544413.2:c.1424C>G ENSP00000438804.1:p.Pro475Arg
ENST00000544574.5:c.*187C>G ENSP00000438565.1:n.*187C>G
ENST00000560968.5:c.1241C>G
ENST00000615446.4:c.212C>G ENSP00000483994.1:p.Pro71Arg
ENST00000617366.4:c.587-46C>G ENSP00000481967.1:n.587-46C>G
NM_000545.5:c.1424C>G , LRG_522t1:c.1424C>G NP_000536.5:p.Pro475Arg
NM_000545.6:c.1424C>G NP_000536.5:p.Pro475Arg
NM_001306179.1:c.1424C>G NP_001293108.1:p.Pro475Arg
XM_005253931.2:c.1424C>G XP_005253988.1:p.Pro475Arg
XM_024449168.1:c.1424C>G XP_024304936.1:p.Pro475Arg
NM_000545.8:c.1424C>G MANE Select NP_000536.6:p.Pro475Arg
NM_001306179.2:c.1424C>G NP_001293108.2:p.Pro475Arg
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