Canonical Allele Identifier: CA2621384012
Gene: HNF1A HGNC NCBI

Linked Data

gnomAD v4: 12-120994478-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994478G>T , CM000674.2:g.120994478G>T GRCh38
NC_000012.11:g.121432281G>T , CM000674.1:g.121432281G>T GRCh37
NC_000012.10:g.119916664G>T NCBI36
NG_011731.2:g.20733G>T , LRG_522:g.20733G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+278G>T ENSP00000453965.2:n.750+278G>T
ENST00000257555.11:c.955+73G>T MANE Select ENSP00000257555.5:n.955+73G>T
ENST00000257555.10:c.955+73G>T ENSP00000257555.4:n.955+73G>T
ENST00000400024.6:c.955+73G>T ENSP00000476181.1:n.955+73G>T
ENST00000402929.5:n.1090+73G>T
ENST00000535955.5:n.43-3013G>T
ENST00000538626.2:n.191-3013G>T
ENST00000538646.5:c.768+73G>T ENSP00000443964.1:n.768+73G>T
ENST00000540108.1:c.*395+73G>T ENSP00000445445.1:n.*395+73G>T
ENST00000541395.5:c.955+73G>T ENSP00000443112.1:n.955+73G>T
ENST00000541924.5:c.713+772G>T ENSP00000440361.1:n.713+772G>T
ENST00000543427.5:c.633+852G>T ENSP00000439721.2:n.633+852G>T
ENST00000544413.2:c.955+73G>T ENSP00000438804.1:n.955+73G>T
ENST00000544574.5:c.73-2139G>T ENSP00000438565.1:n.73-2139G>T
ENST00000560968.5:c.893+278G>T
ENST00000615446.4:c.-257-1784G>T ENSP00000483994.1:n.-257-1784G>T
ENST00000617366.4:c.586+899G>T ENSP00000481967.1:n.586+899G>T
NM_000545.5:c.955+73G>T , LRG_522t1:c.955+73G>T NP_000536.5:n.955+73G>T
NM_000545.6:c.955+73G>T NP_000536.5:n.955+73G>T
NM_001306179.1:c.955+73G>T NP_001293108.1:n.955+73G>T
XM_005253931.2:c.955+73G>T XP_005253988.1:n.955+73G>T
XM_024449168.1:c.955+73G>T XP_024304936.1:n.955+73G>T
NM_000545.8:c.955+73G>T MANE Select NP_000536.6:n.955+73G>T
NM_001306179.2:c.955+73G>T NP_001293108.2:n.955+73G>T
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