Canonical Allele Identifier: CA2067686449
Gene: HNF1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997694A= , CM000674.2:g.120997694A= GRCh38
NC_000012.11:g.121435497A= , CM000674.1:g.121435497A= GRCh37
NC_000012.10:g.119919880A= NCBI36
NG_011731.2:g.23949A= , LRG_522:g.23949A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*248+29A= ENSP00000453965.2:n.*248+29A=
ENST00000257555.11:c.1501+29A= MANE Select ENSP00000257555.5:n.1501+29A=
ENST00000257555.10:c.1501+29A= ENSP00000257555.4:n.1501+29A=
ENST00000400024.6:c.1530A= ENSP00000476181.1:p.Gly510=
ENST00000402929.5:n.2396A=
ENST00000535955.5:n.246A=
ENST00000538626.2:n.394A=
ENST00000538646.5:c.*506A= ENSP00000443964.1:n.*506A=
ENST00000540108.1:c.*941+29A= ENSP00000445445.1:n.*941+29A=
ENST00000541395.5:c.1501+29A= ENSP00000443112.1:n.1501+29A=
ENST00000541924.5:c.*544A= ENSP00000440361.1:n.*544A=
ENST00000543255.1:n.574A=
ENST00000543427.5:c.964+29A= ENSP00000439721.2:n.964+29A=
ENST00000544413.2:c.1501+29A= ENSP00000438804.1:n.1501+29A=
ENST00000544574.5:c.*293A= ENSP00000438565.1:n.*293A=
ENST00000560968.5:c.1318+29A=
ENST00000615446.4:c.289+29A= ENSP00000483994.1:n.289+29A=
ENST00000617366.4:c.618+29A= ENSP00000481967.1:n.618+29A=
NM_000545.5:c.1501+29A= , LRG_522t1:c.1501+29A= NP_000536.5:n.1501+29A=
NM_000545.6:c.1501+29A= NP_000536.5:n.1501+29A=
NM_001306179.1:c.1501+29A= NP_001293108.1:n.1501+29A=
XM_005253931.2:c.1501+29A= XP_005253988.1:n.1501+29A=
XM_024449168.1:c.1501+29A= XP_024304936.1:n.1501+29A=
NM_000545.8:c.1501+29A= MANE Select NP_000536.6:n.1501+29A=
NM_001306179.2:c.1501+29A= NP_001293108.2:n.1501+29A=
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