Canonical Allele Identifier: CA244534926
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs982519387
gnomAD v3: 12-120997330-C-T
gnomAD v4: 12-120997330-C-T
MyVariant Identifiers: chr12:g.121435133C>T (hg19) chr12:g.120997330C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997330C>T , CM000674.2:g.120997330C>T GRCh38
NC_000012.11:g.121435133C>T , CM000674.1:g.121435133C>T GRCh37
NC_000012.10:g.119919516C>T NCBI36
NG_011731.2:g.23585C>T , LRG_522:g.23585C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*57-144C>T ENSP00000453965.2:n.*57-144C>T
ENST00000257555.11:c.1310-144C>T MANE Select ENSP00000257555.5:n.1310-144C>T
ENST00000257555.10:c.1310-144C>T ENSP00000257555.4:n.1310-144C>T
ENST00000400024.6:c.1310-144C>T ENSP00000476181.1:n.1310-144C>T
ENST00000402929.5:n.2032C>T
ENST00000535955.5:n.43-161C>T
ENST00000538626.2:n.191-161C>T
ENST00000538646.5:c.*286-144C>T ENSP00000443964.1:n.*286-144C>T
ENST00000540108.1:c.*750-144C>T ENSP00000445445.1:n.*750-144C>T
ENST00000541395.5:c.1310-144C>T ENSP00000443112.1:n.1310-144C>T
ENST00000541924.5:c.*324-144C>T ENSP00000440361.1:n.*324-144C>T
ENST00000543255.1:n.354-144C>T
ENST00000543427.5:c.773-144C>T ENSP00000439721.2:n.773-144C>T
ENST00000544413.2:c.1310-144C>T ENSP00000438804.1:n.1310-144C>T
ENST00000544574.5:c.*73-144C>T ENSP00000438565.1:n.*73-144C>T
ENST00000560968.5:c.1127-144C>T
ENST00000615446.4:c.98-144C>T ENSP00000483994.1:n.98-144C>T
ENST00000617366.4:c.587-304C>T ENSP00000481967.1:n.587-304C>T
NM_000545.5:c.1310-144C>T , LRG_522t1:c.1310-144C>T NP_000536.5:n.1310-144C>T
NM_000545.6:c.1310-144C>T NP_000536.5:n.1310-144C>T
NM_001306179.1:c.1310-144C>T NP_001293108.1:n.1310-144C>T
XM_005253931.2:c.1310-144C>T XP_005253988.1:n.1310-144C>T
XM_024449168.1:c.1310-144C>T XP_024304936.1:n.1310-144C>T
NM_000545.8:c.1310-144C>T MANE Select NP_000536.6:n.1310-144C>T
NM_001306179.2:c.1310-144C>T NP_001293108.2:n.1310-144C>T
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