Canonical Allele Identifier: CA386965391
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 805636
ClinVar RCV Id: RCV000993272 RCV002463460
dbSNP Id: rs1593058338
gnomAD v4: 12-120993697-A-G
MyVariant Identifiers: chr12:g.121431500A>G (hg19) chr12:g.120993697A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993697A>G , CM000674.2:g.120993697A>G GRCh38
NC_000012.11:g.121431500A>G , CM000674.1:g.121431500A>G GRCh37
NC_000012.10:g.119915883A>G NCBI36
NG_011731.2:g.19952A>G , LRG_522:g.19952A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.704A>G ENSP00000453965.2:p.Glu235Gly
ENST00000257555.11:c.704A>G MANE Select ENSP00000257555.5:p.Glu235Gly
ENST00000257555.10:c.704A>G ENSP00000257555.4:p.Glu235Gly
ENST00000400024.6:c.704A>G ENSP00000476181.1:p.Glu235Gly
ENST00000402929.5:n.839A>G
ENST00000535955.5:n.43-3794A>G
ENST00000538626.2:n.191-3794A>G
ENST00000538646.5:c.527-467A>G ENSP00000443964.1:n.527-467A>G
ENST00000540108.1:c.*144A>G ENSP00000445445.1:n.*144A>G
ENST00000541395.5:c.704A>G ENSP00000443112.1:p.Glu235Gly
ENST00000541924.5:c.704A>G ENSP00000440361.1:p.Glu235Gly
ENST00000543427.5:c.633+71A>G ENSP00000439721.2:n.633+71A>G
ENST00000544413.2:c.704A>G ENSP00000438804.1:p.Glu235Gly
ENST00000544574.5:c.73-2920A>G ENSP00000438565.1:n.73-2920A>G
ENST00000560968.5:c.847A>G
ENST00000615446.4:c.-257-2565A>G ENSP00000483994.1:n.-257-2565A>G
ENST00000617366.4:c.586+118A>G ENSP00000481967.1:n.586+118A>G
NM_000545.5:c.704A>G , LRG_522t1:c.704A>G NP_000536.5:p.Glu235Gly
NM_000545.6:c.704A>G NP_000536.5:p.Glu235Gly
NM_001306179.1:c.704A>G NP_001293108.1:p.Glu235Gly
XM_005253931.2:c.704A>G XP_005253988.1:p.Glu235Gly
XM_024449168.1:c.704A>G XP_024304936.1:p.Glu235Gly
NM_000545.8:c.704A>G MANE Select NP_000536.6:p.Glu235Gly
NM_001306179.2:c.704A>G NP_001293108.2:p.Glu235Gly
Search 100 bp 5'
Search 100 bp 3'