Canonical Allele Identifier: CA2621391147
Gene: HNF1A HGNC NCBI

Linked Data

gnomAD v4: 12-120997713-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997713C>T , CM000674.2:g.120997713C>T GRCh38
NC_000012.11:g.121435516C>T , CM000674.1:g.121435516C>T GRCh37
NC_000012.10:g.119919899C>T NCBI36
NG_011731.2:g.23968C>T , LRG_522:g.23968C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*248+48C>T ENSP00000453965.2:n.*248+48C>T
ENST00000257555.11:c.1501+48C>T MANE Select ENSP00000257555.5:n.1501+48C>T
ENST00000257555.10:c.1501+48C>T ENSP00000257555.4:n.1501+48C>T
ENST00000400024.6:c.1549C>T ENSP00000476181.1:p.Leu517=
ENST00000402929.5:n.2415C>T
ENST00000535955.5:n.265C>T
ENST00000538626.2:n.413C>T
ENST00000538646.5:c.*525C>T ENSP00000443964.1:n.*525C>T
ENST00000540108.1:c.*941+48C>T ENSP00000445445.1:n.*941+48C>T
ENST00000541395.5:c.1501+48C>T ENSP00000443112.1:n.1501+48C>T
ENST00000541924.5:c.*563C>T ENSP00000440361.1:n.*563C>T
ENST00000543255.1:n.593C>T
ENST00000543427.5:c.964+48C>T ENSP00000439721.2:n.964+48C>T
ENST00000544413.2:c.1501+48C>T ENSP00000438804.1:n.1501+48C>T
ENST00000544574.5:c.*312C>T ENSP00000438565.1:n.*312C>T
ENST00000560968.5:c.1318+48C>T
ENST00000615446.4:c.289+48C>T ENSP00000483994.1:n.289+48C>T
ENST00000617366.4:c.618+48C>T ENSP00000481967.1:n.618+48C>T
NM_000545.5:c.1501+48C>T , LRG_522t1:c.1501+48C>T NP_000536.5:n.1501+48C>T
NM_000545.6:c.1501+48C>T NP_000536.5:n.1501+48C>T
NM_001306179.1:c.1501+48C>T NP_001293108.1:n.1501+48C>T
XM_005253931.2:c.1501+48C>T XP_005253988.1:n.1501+48C>T
XM_024449168.1:c.1501+48C>T XP_024304936.1:n.1501+48C>T
NM_000545.8:c.1501+48C>T MANE Select NP_000536.6:n.1501+48C>T
NM_001306179.2:c.1501+48C>T NP_001293108.2:n.1501+48C>T
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