Canonical Allele Identifier: CA386970356
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2574169
ClinVar RCV Id: RCV003318534
MyVariant Identifiers: chr12:g.121435448C>T (hg19) chr12:g.120997645C>T (hg38)
ERepo: CA386970356/MONDO:0015967/017
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997645C>T , CM000674.2:g.120997645C>T GRCh38
NC_000012.11:g.121435448C>T , CM000674.1:g.121435448C>T GRCh37
NC_000012.10:g.119919831C>T NCBI36
NG_011731.2:g.23900C>T , LRG_522:g.23900C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*228C>T ENSP00000453965.2:n.*228C>T
ENST00000257555.11:c.1481C>T MANE Select ENSP00000257555.5:p.Ala494Val
ENST00000257555.10:c.1481C>T ENSP00000257555.4:p.Ala494Val
ENST00000400024.6:c.1481C>T ENSP00000476181.1:p.Ala494Val
ENST00000402929.5:n.2347C>T
ENST00000535955.5:n.197C>T
ENST00000538626.2:n.345C>T
ENST00000538646.5:c.*457C>T ENSP00000443964.1:n.*457C>T
ENST00000540108.1:c.*921C>T ENSP00000445445.1:n.*921C>T
ENST00000541395.5:c.1481C>T ENSP00000443112.1:p.Ala494Val
ENST00000541924.5:c.*495C>T ENSP00000440361.1:n.*495C>T
ENST00000543255.1:n.525C>T
ENST00000543427.5:c.944C>T ENSP00000439721.2:p.Ala315Val
ENST00000544413.2:c.1481C>T ENSP00000438804.1:p.Ala494Val
ENST00000544574.5:c.*244C>T ENSP00000438565.1:n.*244C>T
ENST00000560968.5:c.1298C>T
ENST00000615446.4:c.269C>T ENSP00000483994.1:p.Ala90Val
ENST00000617366.4:c.598C>T ENSP00000481967.1:p.Leu200Phe
NM_000545.5:c.1481C>T , LRG_522t1:c.1481C>T NP_000536.5:p.Ala494Val
NM_000545.6:c.1481C>T NP_000536.5:p.Ala494Val
NM_001306179.1:c.1481C>T NP_001293108.1:p.Ala494Val
XM_005253931.2:c.1481C>T XP_005253988.1:p.Ala494Val
XM_024449168.1:c.1481C>T XP_024304936.1:p.Ala494Val
NM_000545.8:c.1481C>T MANE Select NP_000536.6:p.Ala494Val
NM_001306179.2:c.1481C>T NP_001293108.2:p.Ala494Val
Search 100 bp 5'
Search 100 bp 3'