Canonical Allele Identifier: CA2067686586
Gene: HNF1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997741C= , CM000674.2:g.120997741C= GRCh38
NC_000012.11:g.121435544C= , CM000674.1:g.121435544C= GRCh37
NC_000012.10:g.119919927C= NCBI36
NG_011731.2:g.23996C= , LRG_522:g.23996C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*248+76C= ENSP00000453965.2:n.*248+76C=
ENST00000257555.11:c.1501+76C= MANE Select ENSP00000257555.5:n.1501+76C=
ENST00000257555.10:c.1501+76C= ENSP00000257555.4:n.1501+76C=
ENST00000400024.6:c.1577C= ENSP00000476181.1:p.Ala526=
ENST00000402929.5:n.2443C=
ENST00000535955.5:n.293C=
ENST00000538626.2:n.441C=
ENST00000538646.5:c.*553C= ENSP00000443964.1:n.*553C=
ENST00000540108.1:c.*941+76C= ENSP00000445445.1:n.*941+76C=
ENST00000541395.5:c.1501+76C= ENSP00000443112.1:n.1501+76C=
ENST00000541924.5:c.*591C= ENSP00000440361.1:n.*591C=
ENST00000543255.1:n.621C=
ENST00000543427.5:c.964+76C= ENSP00000439721.2:n.964+76C=
ENST00000544413.2:c.1501+76C= ENSP00000438804.1:n.1501+76C=
ENST00000544574.5:c.*340C= ENSP00000438565.1:n.*340C=
ENST00000560968.5:c.1318+76C=
ENST00000615446.4:c.289+76C= ENSP00000483994.1:n.289+76C=
ENST00000617366.4:c.618+76C= ENSP00000481967.1:n.618+76C=
NM_000545.5:c.1501+76C= , LRG_522t1:c.1501+76C= NP_000536.5:n.1501+76C=
NM_000545.6:c.1501+76C= NP_000536.5:n.1501+76C=
NM_001306179.1:c.1501+76C= NP_001293108.1:n.1501+76C=
XM_005253931.2:c.1501+76C= XP_005253988.1:n.1501+76C=
XM_024449168.1:c.1501+76C= XP_024304936.1:n.1501+76C=
NM_000545.8:c.1501+76C= MANE Select NP_000536.6:n.1501+76C=
NM_001306179.2:c.1501+76C= NP_001293108.2:n.1501+76C=
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