Canonical Allele Identifier: CA2067692403

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120999604A= , CM000674.2:g.120999604A=	GRCh38
NC_000012.11:g.121437407A= , CM000674.1:g.121437407A=	GRCh37
NC_000012.10:g.119921790A=	NCBI36
NG_011731.2:g.25859A= , LRG_522:g.25859A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000545.8:c.1745A= MANE Select	NP_000536.6:p.His582=
ENST00000257555.11:c.1745A= MANE Select	ENSP00000257555.5:p.His582=
NM_000545.5:c.1745A= , LRG_522t1:c.1745A=	NP_000536.5:p.His582=
NM_000545.6:c.1745A=	NP_000536.5:p.His582=
NM_001306179.1:c.1766A=	NP_001293108.1:p.His589=
NM_001306179.2:c.1766A=	NP_001293108.2:p.His589=
ENST00000257555.10:c.1745A=	ENSP00000257555.4:p.His582=
ENST00000540108.1:c.*1185A=	ENSP00000445445.1:n.*1185A=
ENST00000541395.5:c.1838A=	ENSP00000443112.1:p.His613=
ENST00000543427.5:c.1208A=	ENSP00000439721.2:p.His403=
ENST00000544413.2:c.1766A=	ENSP00000438804.1:p.His589=
ENST00000560968.5:c.1562A=
ENST00000560968.6:c.*492A=	ENSP00000453965.2:n.*492A=
ENST00000615446.4:c.533A=	ENSP00000483994.1:p.His178=
ENST00000617366.4:c.*154A=	ENSP00000481967.1:n.*154A=
XM_005253931.2:c.1838A=	XP_005253988.1:p.His613=
XM_024449168.1:c.1838A=	XP_024304936.1:p.His613=