Canonical Allele Identifier: CA386970008
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135847399
gnomAD v4: 12-120997492-C-T
MyVariant Identifiers: chr12:g.121435295C>T (hg19) chr12:g.120997492C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997492C>T , CM000674.2:g.120997492C>T GRCh38
NC_000012.11:g.121435295C>T , CM000674.1:g.121435295C>T GRCh37
NC_000012.10:g.119919678C>T NCBI36
NG_011731.2:g.23747C>T , LRG_522:g.23747C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*75C>T ENSP00000453965.2:n.*75C>T
ENST00000257555.11:c.1328C>T MANE Select ENSP00000257555.5:p.Ala443Val
ENST00000257555.10:c.1328C>T ENSP00000257555.4:p.Ala443Val
ENST00000400024.6:c.1328C>T ENSP00000476181.1:p.Ala443Val
ENST00000402929.5:n.2194C>T
ENST00000535955.5:n.44C>T
ENST00000538626.2:n.192C>T
ENST00000538646.5:c.*304C>T ENSP00000443964.1:n.*304C>T
ENST00000540108.1:c.*768C>T ENSP00000445445.1:n.*768C>T
ENST00000541395.5:c.1328C>T ENSP00000443112.1:p.Ala443Val
ENST00000541924.5:c.*342C>T ENSP00000440361.1:n.*342C>T
ENST00000543255.1:n.372C>T
ENST00000543427.5:c.791C>T ENSP00000439721.2:p.Ala264Val
ENST00000544413.2:c.1328C>T ENSP00000438804.1:p.Ala443Val
ENST00000544574.5:c.*91C>T ENSP00000438565.1:n.*91C>T
ENST00000560968.5:c.1145C>T
ENST00000615446.4:c.116C>T ENSP00000483994.1:p.Ala39Val
ENST00000617366.4:c.587-142C>T ENSP00000481967.1:n.587-142C>T
NM_000545.5:c.1328C>T , LRG_522t1:c.1328C>T NP_000536.5:p.Ala443Val
NM_000545.6:c.1328C>T NP_000536.5:p.Ala443Val
NM_001306179.1:c.1328C>T NP_001293108.1:p.Ala443Val
XM_005253931.2:c.1328C>T XP_005253988.1:p.Ala443Val
XM_024449168.1:c.1328C>T XP_024304936.1:p.Ala443Val
NM_000545.8:c.1328C>T MANE Select NP_000536.6:p.Ala443Val
NM_001306179.2:c.1328C>T NP_001293108.2:p.Ala443Val
Search 100 bp 5'
Search 100 bp 3'