Canonical Allele Identifier: CA2067679250

Gene: HNF1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120994197A= , CM000674.2:g.120994197A=	GRCh38
NC_000012.11:g.121432000A= , CM000674.1:g.121432000A=	GRCh37
NC_000012.10:g.119916383A=	NCBI36
NG_011731.2:g.20452A= , LRG_522:g.20452A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.747A=	ENSP00000453965.2:p.Ser249=
ENST00000257555.11:c.747A= MANE Select	ENSP00000257555.5:p.Ser249=
ENST00000257555.10:c.747A=	ENSP00000257555.4:p.Ser249=
ENST00000400024.6:c.747A=	ENSP00000476181.1:p.Ser249=
ENST00000402929.5:n.882A=
ENST00000535955.5:n.43-3294A=
ENST00000538626.2:n.191-3294A=
ENST00000538646.5:c.560A=	ENSP00000443964.1:p.His187=
ENST00000540108.1:c.*187A=	ENSP00000445445.1:n.*187A=
ENST00000541395.5:c.747A=	ENSP00000443112.1:p.Ser249=
ENST00000541924.5:c.713+491A=	ENSP00000440361.1:n.713+491A=
ENST00000543427.5:c.633+571A=	ENSP00000439721.2:n.633+571A=
ENST00000544413.2:c.747A=	ENSP00000438804.1:p.Ser249=
ENST00000544574.5:c.73-2420A=	ENSP00000438565.1:n.73-2420A=
ENST00000560968.5:c.890A=
ENST00000615446.4:c.-257-2065A=	ENSP00000483994.1:n.-257-2065A=
ENST00000617366.4:c.586+618A=	ENSP00000481967.1:n.586+618A=
NM_000545.5:c.747A= , LRG_522t1:c.747A=	NP_000536.5:p.Ser249=
NM_000545.6:c.747A=	NP_000536.5:p.Ser249=
NM_001306179.1:c.747A=	NP_001293108.1:p.Ser249=
XM_005253931.2:c.747A=	XP_005253988.1:p.Ser249=
XM_024449168.1:c.747A=	XP_024304936.1:p.Ser249=
NM_000545.8:c.747A= MANE Select	NP_000536.6:p.Ser249=
NM_001306179.2:c.747A=	NP_001293108.2:p.Ser249=