Canonical Allele Identifier: CA482165237
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135847943
MyVariant Identifiers: chr12:g.121435401A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997598A>C , CM000674.2:g.120997598A>C GRCh38
NC_000012.11:g.121435401A>C , CM000674.1:g.121435401A>C GRCh37
NC_000012.10:g.119919784A>C NCBI36
NG_011731.2:g.23853A>C , LRG_522:g.23853A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*181A>C ENSP00000453965.2:n.*181A>C
ENST00000257555.11:c.1434A>C MANE Select ENSP00000257555.5:p.Pro478=
ENST00000257555.10:c.1434A>C ENSP00000257555.4:p.Pro478=
ENST00000400024.6:c.1434A>C ENSP00000476181.1:p.Pro478=
ENST00000402929.5:n.2300A>C
ENST00000535955.5:n.150A>C
ENST00000538626.2:n.298A>C
ENST00000538646.5:c.*410A>C ENSP00000443964.1:n.*410A>C
ENST00000540108.1:c.*874A>C ENSP00000445445.1:n.*874A>C
ENST00000541395.5:c.1434A>C ENSP00000443112.1:p.Pro478=
ENST00000541924.5:c.*448A>C ENSP00000440361.1:n.*448A>C
ENST00000543255.1:n.478A>C
ENST00000543427.5:c.897A>C ENSP00000439721.2:p.Pro299=
ENST00000544413.2:c.1434A>C ENSP00000438804.1:p.Pro478=
ENST00000544574.5:c.*197A>C ENSP00000438565.1:n.*197A>C
ENST00000560968.5:c.1251A>C
ENST00000615446.4:c.222A>C ENSP00000483994.1:p.Pro74=
ENST00000617366.4:c.587-36A>C ENSP00000481967.1:n.587-36A>C
NM_000545.5:c.1434A>C , LRG_522t1:c.1434A>C NP_000536.5:p.Pro478=
NM_000545.6:c.1434A>C NP_000536.5:p.Pro478=
NM_001306179.1:c.1434A>C NP_001293108.1:p.Pro478=
XM_005253931.2:c.1434A>C XP_005253988.1:p.Pro478=
XM_024449168.1:c.1434A>C XP_024304936.1:p.Pro478=
NM_000545.8:c.1434A>C MANE Select NP_000536.6:p.Pro478=
NM_001306179.2:c.1434A>C NP_001293108.2:p.Pro478=