Canonical Allele Identifier: CA386965290
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1756327
dbSNP Id: rs2135839880

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993688T>C , CM000674.2:g.120993688T>C GRCh38
NC_000012.11:g.121431491T>C , CM000674.1:g.121431491T>C GRCh37
NC_000012.10:g.119915874T>C NCBI36
NG_011731.2:g.19943T>C , LRG_522:g.19943T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.695T>C ENSP00000453965.2:p.Leu232Pro
ENST00000257555.11:c.695T>C MANE Select ENSP00000257555.5:p.Leu232Pro
ENST00000257555.10:c.695T>C ENSP00000257555.4:p.Leu232Pro
ENST00000400024.6:c.695T>C ENSP00000476181.1:p.Leu232Pro
ENST00000402929.5:n.830T>C
ENST00000535955.5:n.43-3803T>C
ENST00000538626.2:n.191-3803T>C
ENST00000538646.5:c.527-476T>C ENSP00000443964.1:n.527-476T>C
ENST00000540108.1:c.*135T>C ENSP00000445445.1:n.*135T>C
ENST00000541395.5:c.695T>C ENSP00000443112.1:p.Leu232Pro
ENST00000541924.5:c.695T>C ENSP00000440361.1:p.Leu232Pro
ENST00000543427.5:c.633+62T>C ENSP00000439721.2:n.633+62T>C
ENST00000544413.2:c.695T>C ENSP00000438804.1:p.Leu232Pro
ENST00000544574.5:c.73-2929T>C ENSP00000438565.1:n.73-2929T>C
ENST00000560968.5:c.838T>C
ENST00000615446.4:c.-257-2574T>C ENSP00000483994.1:n.-257-2574T>C
ENST00000617366.4:c.586+109T>C ENSP00000481967.1:n.586+109T>C
NM_000545.5:c.695T>C , LRG_522t1:c.695T>C NP_000536.5:p.Leu232Pro
NM_000545.6:c.695T>C NP_000536.5:p.Leu232Pro
NM_001306179.1:c.695T>C NP_001293108.1:p.Leu232Pro
XM_005253931.2:c.695T>C XP_005253988.1:p.Leu232Pro
XM_024449168.1:c.695T>C XP_024304936.1:p.Leu232Pro
NM_000545.8:c.695T>C MANE Select NP_000536.6:p.Leu232Pro
NM_001306179.2:c.695T>C NP_001293108.2:p.Leu232Pro