Canonical Allele Identifier: CA2067678564
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993716C= , CM000674.2:g.120993716C= GRCh38
NC_000012.11:g.121431519C= , CM000674.1:g.121431519C= GRCh37
NC_000012.10:g.119915902C= NCBI36
NG_011731.2:g.19971C= , LRG_522:g.19971C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.713+10C= ENSP00000453965.2:n.713+10C=
ENST00000257555.11:c.713+10C= MANE Select ENSP00000257555.5:n.713+10C=
ENST00000257555.10:c.713+10C= ENSP00000257555.4:n.713+10C=
ENST00000400024.6:c.713+10C= ENSP00000476181.1:n.713+10C=
ENST00000402929.5:n.848+10C=
ENST00000535955.5:n.43-3775C=
ENST00000538626.2:n.191-3775C=
ENST00000538646.5:c.527-448C= ENSP00000443964.1:n.527-448C=
ENST00000540108.1:c.*153+10C= ENSP00000445445.1:n.*153+10C=
ENST00000541395.5:c.713+10C= ENSP00000443112.1:n.713+10C=
ENST00000541924.5:c.713+10C= ENSP00000440361.1:n.713+10C=
ENST00000543427.5:c.633+90C= ENSP00000439721.2:n.633+90C=
ENST00000544413.2:c.713+10C= ENSP00000438804.1:n.713+10C=
ENST00000544574.5:c.73-2901C= ENSP00000438565.1:n.73-2901C=
ENST00000560968.5:c.856+10C=
ENST00000615446.4:c.-257-2546C= ENSP00000483994.1:n.-257-2546C=
ENST00000617366.4:c.586+137C= ENSP00000481967.1:n.586+137C=
NM_000545.5:c.713+10C= , LRG_522t1:c.713+10C= NP_000536.5:n.713+10C=
NM_000545.6:c.713+10C= NP_000536.5:n.713+10C=
NM_001306179.1:c.713+10C= NP_001293108.1:n.713+10C=
XM_005253931.2:c.713+10C= XP_005253988.1:n.713+10C=
XM_024449168.1:c.713+10C= XP_024304936.1:n.713+10C=
NM_000545.8:c.713+10C= MANE Select NP_000536.6:n.713+10C=
NM_001306179.2:c.713+10C= NP_001293108.2:n.713+10C=