Canonical Allele Identifier: CA2067683403

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996481C= , CM000674.2:g.120996481C=	GRCh38
NC_000012.11:g.121434284C= , CM000674.1:g.121434284C=	GRCh37
NC_000012.10:g.119918667C=	NCBI36
NG_011731.2:g.22736C= , LRG_522:g.22736C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.782-60C=	ENSP00000453965.2:n.782-60C=
ENST00000257555.11:c.1108-60C= MANE Select	ENSP00000257555.5:n.1108-60C=
ENST00000257555.10:c.1108-60C=	ENSP00000257555.4:n.1108-60C=
ENST00000400024.6:c.1108-60C=	ENSP00000476181.1:n.1108-60C=
ENST00000402929.5:n.1243-60C=
ENST00000535955.5:n.43-1010C=
ENST00000538626.2:n.191-1010C=
ENST00000538646.5:c.*84-60C=	ENSP00000443964.1:n.*84-60C=
ENST00000540108.1:c.*548-60C=	ENSP00000445445.1:n.*548-60C=
ENST00000541395.5:c.1108-60C=	ENSP00000443112.1:n.1108-60C=
ENST00000541924.5:c.*122-60C=	ENSP00000440361.1:n.*122-60C=
ENST00000543255.1:n.92C=
ENST00000543427.5:c.634-123C=	ENSP00000439721.2:n.634-123C=
ENST00000544413.2:c.1108-60C=	ENSP00000438804.1:n.1108-60C=
ENST00000544574.5:c.73-136C=	ENSP00000438565.1:n.73-136C=
ENST00000560968.5:c.925-60C=
ENST00000615446.4:c.-105-60C=	ENSP00000483994.1:n.-105-60C=
ENST00000617366.4:c.587-1153C=	ENSP00000481967.1:n.587-1153C=
NM_000545.5:c.1108-60C= , LRG_522t1:c.1108-60C=	NP_000536.5:n.1108-60C=
NM_000545.6:c.1108-60C=	NP_000536.5:n.1108-60C=
NM_001306179.1:c.1108-60C=	NP_001293108.1:n.1108-60C=
XM_005253931.2:c.1108-60C=	XP_005253988.1:n.1108-60C=
XM_024449168.1:c.1108-60C=	XP_024304936.1:n.1108-60C=
NM_000545.8:c.1108-60C= MANE Select	NP_000536.6:n.1108-60C=
NM_001306179.2:c.1108-60C=	NP_001293108.2:n.1108-60C=