Canonical Allele Identifier: CA386970134
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs1322293383
gnomAD v2: 12-121435352-T-C
gnomAD v4: 12-120997549-T-C
MyVariant Identifiers: chr12:g.121435352T>C (hg19) chr12:g.120997549T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997549T>C , CM000674.2:g.120997549T>C GRCh38
NC_000012.11:g.121435352T>C , CM000674.1:g.121435352T>C GRCh37
NC_000012.10:g.119919735T>C NCBI36
NG_011731.2:g.23804T>C , LRG_522:g.23804T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*132T>C ENSP00000453965.2:n.*132T>C
ENST00000257555.11:c.1385T>C MANE Select ENSP00000257555.5:p.Val462Ala
ENST00000257555.10:c.1385T>C ENSP00000257555.4:p.Val462Ala
ENST00000400024.6:c.1385T>C ENSP00000476181.1:p.Val462Ala
ENST00000402929.5:n.2251T>C
ENST00000535955.5:n.101T>C
ENST00000538626.2:n.249T>C
ENST00000538646.5:c.*361T>C ENSP00000443964.1:n.*361T>C
ENST00000540108.1:c.*825T>C ENSP00000445445.1:n.*825T>C
ENST00000541395.5:c.1385T>C ENSP00000443112.1:p.Val462Ala
ENST00000541924.5:c.*399T>C ENSP00000440361.1:n.*399T>C
ENST00000543255.1:n.429T>C
ENST00000543427.5:c.848T>C ENSP00000439721.2:p.Val283Ala
ENST00000544413.2:c.1385T>C ENSP00000438804.1:p.Val462Ala
ENST00000544574.5:c.*148T>C ENSP00000438565.1:n.*148T>C
ENST00000560968.5:c.1202T>C
ENST00000615446.4:c.173T>C ENSP00000483994.1:p.Val58Ala
ENST00000617366.4:c.587-85T>C ENSP00000481967.1:n.587-85T>C
NM_000545.5:c.1385T>C , LRG_522t1:c.1385T>C NP_000536.5:p.Val462Ala
NM_000545.6:c.1385T>C NP_000536.5:p.Val462Ala
NM_001306179.1:c.1385T>C NP_001293108.1:p.Val462Ala
XM_005253931.2:c.1385T>C XP_005253988.1:p.Val462Ala
XM_024449168.1:c.1385T>C XP_024304936.1:p.Val462Ala
NM_000545.8:c.1385T>C MANE Select NP_000536.6:p.Val462Ala
NM_001306179.2:c.1385T>C NP_001293108.2:p.Val462Ala
Search 100 bp 5'
Search 100 bp 3'