Canonical Allele Identifier: CA2067685549
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997458T= , CM000674.2:g.120997458T= GRCh38
NC_000012.11:g.121435261T= , CM000674.1:g.121435261T= GRCh37
NC_000012.10:g.119919644T= NCBI36
NG_011731.2:g.23713T= , LRG_522:g.23713T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*57-16T= ENSP00000453965.2:n.*57-16T=
ENST00000257555.11:c.1310-16T= MANE Select ENSP00000257555.5:n.1310-16T=
ENST00000257555.10:c.1310-16T= ENSP00000257555.4:n.1310-16T=
ENST00000400024.6:c.1310-16T= ENSP00000476181.1:n.1310-16T=
ENST00000402929.5:n.2160T=
ENST00000535955.5:n.43-33T=
ENST00000538626.2:n.191-33T=
ENST00000538646.5:c.*286-16T= ENSP00000443964.1:n.*286-16T=
ENST00000540108.1:c.*750-16T= ENSP00000445445.1:n.*750-16T=
ENST00000541395.5:c.1310-16T= ENSP00000443112.1:n.1310-16T=
ENST00000541924.5:c.*324-16T= ENSP00000440361.1:n.*324-16T=
ENST00000543255.1:n.354-16T=
ENST00000543427.5:c.773-16T= ENSP00000439721.2:n.773-16T=
ENST00000544413.2:c.1310-16T= ENSP00000438804.1:n.1310-16T=
ENST00000544574.5:c.*73-16T= ENSP00000438565.1:n.*73-16T=
ENST00000560968.5:c.1127-16T=
ENST00000615446.4:c.98-16T= ENSP00000483994.1:n.98-16T=
ENST00000617366.4:c.587-176T= ENSP00000481967.1:n.587-176T=
NM_000545.5:c.1310-16T= , LRG_522t1:c.1310-16T= NP_000536.5:n.1310-16T=
NM_000545.6:c.1310-16T= NP_000536.5:n.1310-16T=
NM_001306179.1:c.1310-16T= NP_001293108.1:n.1310-16T=
XM_005253931.2:c.1310-16T= XP_005253988.1:n.1310-16T=
XM_024449168.1:c.1310-16T= XP_024304936.1:n.1310-16T=
NM_000545.8:c.1310-16T= MANE Select NP_000536.6:n.1310-16T=
NM_001306179.2:c.1310-16T= NP_001293108.2:n.1310-16T=