Canonical Allele Identifier: CA2067686377
Gene: HNF1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997682C= , CM000674.2:g.120997682C= GRCh38
NC_000012.11:g.121435485C= , CM000674.1:g.121435485C= GRCh37
NC_000012.10:g.119919868C= NCBI36
NG_011731.2:g.23937C= , LRG_522:g.23937C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*248+17C= ENSP00000453965.2:n.*248+17C=
ENST00000257555.11:c.1501+17C= MANE Select ENSP00000257555.5:n.1501+17C=
ENST00000257555.10:c.1501+17C= ENSP00000257555.4:n.1501+17C=
ENST00000400024.6:c.1518C= ENSP00000476181.1:p.Pro506=
ENST00000402929.5:n.2384C=
ENST00000535955.5:n.234C=
ENST00000538626.2:n.382C=
ENST00000538646.5:c.*494C= ENSP00000443964.1:n.*494C=
ENST00000540108.1:c.*941+17C= ENSP00000445445.1:n.*941+17C=
ENST00000541395.5:c.1501+17C= ENSP00000443112.1:n.1501+17C=
ENST00000541924.5:c.*532C= ENSP00000440361.1:n.*532C=
ENST00000543255.1:n.562C=
ENST00000543427.5:c.964+17C= ENSP00000439721.2:n.964+17C=
ENST00000544413.2:c.1501+17C= ENSP00000438804.1:n.1501+17C=
ENST00000544574.5:c.*281C= ENSP00000438565.1:n.*281C=
ENST00000560968.5:c.1318+17C=
ENST00000615446.4:c.289+17C= ENSP00000483994.1:n.289+17C=
ENST00000617366.4:c.618+17C= ENSP00000481967.1:n.618+17C=
NM_000545.5:c.1501+17C= , LRG_522t1:c.1501+17C= NP_000536.5:n.1501+17C=
NM_000545.6:c.1501+17C= NP_000536.5:n.1501+17C=
NM_001306179.1:c.1501+17C= NP_001293108.1:n.1501+17C=
XM_005253931.2:c.1501+17C= XP_005253988.1:n.1501+17C=
XM_024449168.1:c.1501+17C= XP_024304936.1:n.1501+17C=
NM_000545.8:c.1501+17C= MANE Select NP_000536.6:n.1501+17C=
NM_001306179.2:c.1501+17C= NP_001293108.2:n.1501+17C=
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