Canonical Allele Identifier: CA2067680070
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs1876993588
gnomAD v4: 12-120994529-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994529T>C , CM000674.2:g.120994529T>C GRCh38
NC_000012.11:g.121432332T>C , CM000674.1:g.121432332T>C GRCh37
NC_000012.10:g.119916715T>C NCBI36
NG_011731.2:g.20784T>C , LRG_522:g.20784T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+329T>C ENSP00000453965.2:n.750+329T>C
ENST00000257555.11:c.955+124T>C MANE Select ENSP00000257555.5:n.955+124T>C
ENST00000257555.10:c.955+124T>C ENSP00000257555.4:n.955+124T>C
ENST00000400024.6:c.955+124T>C ENSP00000476181.1:n.955+124T>C
ENST00000402929.5:n.1090+124T>C
ENST00000535955.5:n.43-2962T>C
ENST00000538626.2:n.191-2962T>C
ENST00000538646.5:c.768+124T>C ENSP00000443964.1:n.768+124T>C
ENST00000540108.1:c.*395+124T>C ENSP00000445445.1:n.*395+124T>C
ENST00000541395.5:c.955+124T>C ENSP00000443112.1:n.955+124T>C
ENST00000541924.5:c.713+823T>C ENSP00000440361.1:n.713+823T>C
ENST00000543427.5:c.633+903T>C ENSP00000439721.2:n.633+903T>C
ENST00000544413.2:c.955+124T>C ENSP00000438804.1:n.955+124T>C
ENST00000544574.5:c.73-2088T>C ENSP00000438565.1:n.73-2088T>C
ENST00000560968.5:c.893+329T>C
ENST00000615446.4:c.-257-1733T>C ENSP00000483994.1:n.-257-1733T>C
ENST00000617366.4:c.586+950T>C ENSP00000481967.1:n.586+950T>C
NM_000545.5:c.955+124T>C , LRG_522t1:c.955+124T>C NP_000536.5:n.955+124T>C
NM_000545.6:c.955+124T>C NP_000536.5:n.955+124T>C
NM_001306179.1:c.955+124T>C NP_001293108.1:n.955+124T>C
XM_005253931.2:c.955+124T>C XP_005253988.1:n.955+124T>C
XM_024449168.1:c.955+124T>C XP_024304936.1:n.955+124T>C
NM_000545.8:c.955+124T>C MANE Select NP_000536.6:n.955+124T>C
NM_001306179.2:c.955+124T>C NP_001293108.2:n.955+124T>C
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