Canonical Allele Identifier: CA916079828
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1676719
ClinVar RCV Id: RCV002222116
dbSNP Id: rs762703502
ERepo: CA916079828/MONDO:0015967/017
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994314dup , CM000674.2:g.120994314dup GRCh38
NC_000012.11:g.121432117dup , CM000674.1:g.121432117dup GRCh37
NC_000012.10:g.119916500dup NCBI36
NG_011731.2:g.20569dup , LRG_522:g.20569dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+114dup ENSP00000453965.2:n.750+114dup
ENST00000257555.11:c.864dup MANE Select ENSP00000257555.5:p.Pro289AlafsTer28
ENST00000257555.10:c.864dup ENSP00000257555.4:p.Pro289AlafsTer28
ENST00000400024.6:c.864dup ENSP00000476181.1:p.Pro289AlafsTer28
ENST00000402929.5:n.999dup
ENST00000535955.5:n.43-3177dup
ENST00000538626.2:n.191-3177dup
ENST00000538646.5:c.677dup ENSP00000443964.1:p.Gln229ProfsTer?
ENST00000540108.1:c.*304dup ENSP00000445445.1:n.*304dup
ENST00000541395.5:c.864dup ENSP00000443112.1:p.Pro289AlafsTer28
ENST00000541924.5:c.713+608dup ENSP00000440361.1:n.713+608dup
ENST00000543427.5:c.633+688dup ENSP00000439721.2:n.633+688dup
ENST00000544413.2:c.864dup ENSP00000438804.1:p.Pro289AlafsTer28
ENST00000544574.5:c.73-2303dup ENSP00000438565.1:n.73-2303dup
ENST00000560968.5:c.893+114dup
ENST00000615446.4:c.-257-1948dup ENSP00000483994.1:n.-257-1948dup
ENST00000617366.4:c.586+735dup ENSP00000481967.1:n.586+735dup
NM_000545.5:c.864dup , LRG_522t1:c.864dup NP_000536.5:p.Pro289AlafsTer28
NM_000545.6:c.864dup NP_000536.5:p.Pro289AlafsTer28
NM_001306179.1:c.864dup NP_001293108.1:p.Pro289AlafsTer28
XM_005253931.2:c.864dup XP_005253988.1:p.Pro289AlafsTer28
XM_024449168.1:c.864dup XP_024304936.1:p.Pro289AlafsTer28
NM_000545.8:c.864dup MANE Select NP_000536.6:p.Pro289AlafsTer28
NM_001306179.2:c.864dup NP_001293108.2:p.Pro289AlafsTer28
Search 100 bp 5'
Search 100 bp 3'