Canonical Allele Identifier: CA2067679104
Gene: HNF1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994116G= , CM000674.2:g.120994116G= GRCh38
NC_000012.11:g.121431919G= , CM000674.1:g.121431919G= GRCh37
NC_000012.10:g.119916302G= NCBI36
NG_011731.2:g.20371G= , LRG_522:g.20371G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.714-48G= ENSP00000453965.2:n.714-48G=
ENST00000257555.11:c.714-48G= MANE Select ENSP00000257555.5:n.714-48G=
ENST00000257555.10:c.714-48G= ENSP00000257555.4:n.714-48G=
ENST00000400024.6:c.714-48G= ENSP00000476181.1:n.714-48G=
ENST00000402929.5:n.849-48G=
ENST00000535955.5:n.43-3375G=
ENST00000538626.2:n.191-3375G=
ENST00000538646.5:c.527-48G= ENSP00000443964.1:n.527-48G=
ENST00000540108.1:c.*154-48G= ENSP00000445445.1:n.*154-48G=
ENST00000541395.5:c.714-48G= ENSP00000443112.1:n.714-48G=
ENST00000541924.5:c.713+410G= ENSP00000440361.1:n.713+410G=
ENST00000543427.5:c.633+490G= ENSP00000439721.2:n.633+490G=
ENST00000544413.2:c.714-48G= ENSP00000438804.1:n.714-48G=
ENST00000544574.5:c.73-2501G= ENSP00000438565.1:n.73-2501G=
ENST00000560968.5:c.857-48G=
ENST00000615446.4:c.-257-2146G= ENSP00000483994.1:n.-257-2146G=
ENST00000617366.4:c.586+537G= ENSP00000481967.1:n.586+537G=
NM_000545.5:c.714-48G= , LRG_522t1:c.714-48G= NP_000536.5:n.714-48G=
NM_000545.6:c.714-48G= NP_000536.5:n.714-48G=
NM_001306179.1:c.714-48G= NP_001293108.1:n.714-48G=
XM_005253931.2:c.714-48G= XP_005253988.1:n.714-48G=
XM_024449168.1:c.714-48G= XP_024304936.1:n.714-48G=
NM_000545.8:c.714-48G= MANE Select NP_000536.6:n.714-48G=
NM_001306179.2:c.714-48G= NP_001293108.2:n.714-48G=
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