Canonical Allele Identifier: CA386970411
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1687080
ClinVar RCV Id: RCV002250411
dbSNP Id: rs1131692182
MyVariant Identifiers: chr12:g.121435469G>T (hg19) chr12:g.120997666G>T (hg38)
ERepo: CA386970411/MONDO:0015967/017
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997666G>T , CM000674.2:g.120997666G>T GRCh38
NC_000012.11:g.121435469G>T , CM000674.1:g.121435469G>T GRCh37
NC_000012.10:g.119919852G>T NCBI36
NG_011731.2:g.23921G>T , LRG_522:g.23921G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*248+1G>T ENSP00000453965.2:n.*248+1G>T
ENST00000257555.11:c.1501+1G>T MANE Select ENSP00000257555.5:n.1501+1G>T
ENST00000257555.10:c.1501+1G>T ENSP00000257555.4:n.1501+1G>T
ENST00000400024.6:c.1502G>T ENSP00000476181.1:p.Gly501Val
ENST00000402929.5:n.2368G>T
ENST00000535955.5:n.218G>T
ENST00000538626.2:n.366G>T
ENST00000538646.5:c.*478G>T ENSP00000443964.1:n.*478G>T
ENST00000540108.1:c.*941+1G>T ENSP00000445445.1:n.*941+1G>T
ENST00000541395.5:c.1501+1G>T ENSP00000443112.1:n.1501+1G>T
ENST00000541924.5:c.*516G>T ENSP00000440361.1:n.*516G>T
ENST00000543255.1:n.546G>T
ENST00000543427.5:c.964+1G>T ENSP00000439721.2:n.964+1G>T
ENST00000544413.2:c.1501+1G>T ENSP00000438804.1:n.1501+1G>T
ENST00000544574.5:c.*265G>T ENSP00000438565.1:n.*265G>T
ENST00000560968.5:c.1318+1G>T
ENST00000615446.4:c.289+1G>T ENSP00000483994.1:n.289+1G>T
ENST00000617366.4:c.618+1G>T ENSP00000481967.1:n.618+1G>T
NM_000545.5:c.1501+1G>T , LRG_522t1:c.1501+1G>T NP_000536.5:n.1501+1G>T
NM_000545.6:c.1501+1G>T NP_000536.5:n.1501+1G>T
NM_001306179.1:c.1501+1G>T NP_001293108.1:n.1501+1G>T
XM_005253931.2:c.1501+1G>T XP_005253988.1:n.1501+1G>T
XM_024449168.1:c.1501+1G>T XP_024304936.1:n.1501+1G>T
NM_000545.8:c.1501+1G>T MANE Select NP_000536.6:n.1501+1G>T
NM_001306179.2:c.1501+1G>T NP_001293108.2:n.1501+1G>T
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