Canonical Allele Identifier: CA482165370

Gene: HNF1A

Linked Data

• dbSNP Id: rs1243933549
• gnomAD v2: 12-121435434-C-T
• gnomAD v4: 12-120997631-C-T
• MyVariant Identifiers: chr12:g.121435434C>T (hg19) ; chr12:g.120997631C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997631C>T , CM000674.2:g.120997631C>T	GRCh38
NC_000012.11:g.121435434C>T , CM000674.1:g.121435434C>T	GRCh37
NC_000012.10:g.119919817C>T	NCBI36
NG_011731.2:g.23886C>T , LRG_522:g.23886C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.*214C>T	ENSP00000453965.2:n.*214C>T
ENST00000257555.11:c.1467C>T MANE Select	ENSP00000257555.5:p.Phe489=
ENST00000257555.10:c.1467C>T	ENSP00000257555.4:p.Phe489=
ENST00000400024.6:c.1467C>T	ENSP00000476181.1:p.Phe489=
ENST00000402929.5:n.2333C>T
ENST00000535955.5:n.183C>T
ENST00000538626.2:n.331C>T
ENST00000538646.5:c.*443C>T	ENSP00000443964.1:n.*443C>T
ENST00000540108.1:c.*907C>T	ENSP00000445445.1:n.*907C>T
ENST00000541395.5:c.1467C>T	ENSP00000443112.1:p.Phe489=
ENST00000541924.5:c.*481C>T	ENSP00000440361.1:n.*481C>T
ENST00000543255.1:n.511C>T
ENST00000543427.5:c.930C>T	ENSP00000439721.2:p.Phe310=
ENST00000544413.2:c.1467C>T	ENSP00000438804.1:p.Phe489=
ENST00000544574.5:c.*230C>T	ENSP00000438565.1:n.*230C>T
ENST00000560968.5:c.1284C>T
ENST00000615446.4:c.255C>T	ENSP00000483994.1:p.Phe85=
ENST00000617366.4:c.587-3C>T	ENSP00000481967.1:n.587-3C>T
NM_000545.5:c.1467C>T , LRG_522t1:c.1467C>T	NP_000536.5:p.Phe489=
NM_000545.6:c.1467C>T	NP_000536.5:p.Phe489=
NM_001306179.1:c.1467C>T	NP_001293108.1:p.Phe489=
XM_005253931.2:c.1467C>T	XP_005253988.1:p.Phe489=
XM_024449168.1:c.1467C>T	XP_024304936.1:p.Phe489=
NM_000545.8:c.1467C>T MANE Select	NP_000536.6:p.Phe489=
NM_001306179.2:c.1467C>T	NP_001293108.2:p.Phe489=