Canonical Allele Identifier: CA386970389
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135848215

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997657G>C , CM000674.2:g.120997657G>C GRCh38
NC_000012.11:g.121435460G>C , CM000674.1:g.121435460G>C GRCh37
NC_000012.10:g.119919843G>C NCBI36
NG_011731.2:g.23912G>C , LRG_522:g.23912G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*240G>C ENSP00000453965.2:n.*240G>C
ENST00000257555.11:c.1493G>C MANE Select ENSP00000257555.5:p.Ser498Thr
ENST00000257555.10:c.1493G>C ENSP00000257555.4:p.Ser498Thr
ENST00000400024.6:c.1493G>C ENSP00000476181.1:p.Ser498Thr
ENST00000402929.5:n.2359G>C
ENST00000535955.5:n.209G>C
ENST00000538626.2:n.357G>C
ENST00000538646.5:c.*469G>C ENSP00000443964.1:n.*469G>C
ENST00000540108.1:c.*933G>C ENSP00000445445.1:n.*933G>C
ENST00000541395.5:c.1493G>C ENSP00000443112.1:p.Ser498Thr
ENST00000541924.5:c.*507G>C ENSP00000440361.1:n.*507G>C
ENST00000543255.1:n.537G>C
ENST00000543427.5:c.956G>C ENSP00000439721.2:p.Ser319Thr
ENST00000544413.2:c.1493G>C ENSP00000438804.1:p.Ser498Thr
ENST00000544574.5:c.*256G>C ENSP00000438565.1:n.*256G>C
ENST00000560968.5:c.1310G>C
ENST00000615446.4:c.281G>C ENSP00000483994.1:p.Ser94Thr
ENST00000617366.4:c.610G>C ENSP00000481967.1:p.Ala204Pro
NM_000545.5:c.1493G>C , LRG_522t1:c.1493G>C NP_000536.5:p.Ser498Thr
NM_000545.6:c.1493G>C NP_000536.5:p.Ser498Thr
NM_001306179.1:c.1493G>C NP_001293108.1:p.Ser498Thr
XM_005253931.2:c.1493G>C XP_005253988.1:p.Ser498Thr
XM_024449168.1:c.1493G>C XP_024304936.1:p.Ser498Thr
NM_000545.8:c.1493G>C MANE Select NP_000536.6:p.Ser498Thr
NM_001306179.2:c.1493G>C NP_001293108.2:p.Ser498Thr