Canonical Allele Identifier: CA386969973
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135847314

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997474G>C , CM000674.2:g.120997474G>C GRCh38
NC_000012.11:g.121435277G>C , CM000674.1:g.121435277G>C GRCh37
NC_000012.10:g.119919660G>C NCBI36
NG_011731.2:g.23729G>C , LRG_522:g.23729G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*57G>C ENSP00000453965.2:n.*57G>C
ENST00000257555.11:c.1310G>C MANE Select ENSP00000257555.5:p.Gly437Ala
ENST00000257555.10:c.1310G>C ENSP00000257555.4:p.Gly437Ala
ENST00000400024.6:c.1310G>C ENSP00000476181.1:p.Gly437Ala
ENST00000402929.5:n.2176G>C
ENST00000535955.5:n.43-17G>C
ENST00000538626.2:n.191-17G>C
ENST00000538646.5:c.*286G>C ENSP00000443964.1:n.*286G>C
ENST00000540108.1:c.*750G>C ENSP00000445445.1:n.*750G>C
ENST00000541395.5:c.1310G>C ENSP00000443112.1:p.Gly437Ala
ENST00000541924.5:c.*324G>C ENSP00000440361.1:n.*324G>C
ENST00000543255.1:n.354G>C
ENST00000543427.5:c.773G>C ENSP00000439721.2:p.Gly258Ala
ENST00000544413.2:c.1310G>C ENSP00000438804.1:p.Gly437Ala
ENST00000544574.5:c.*73G>C ENSP00000438565.1:n.*73G>C
ENST00000560968.5:c.1127G>C
ENST00000615446.4:c.98G>C ENSP00000483994.1:p.Gly33Ala
ENST00000617366.4:c.587-160G>C ENSP00000481967.1:n.587-160G>C
NM_000545.5:c.1310G>C , LRG_522t1:c.1310G>C NP_000536.5:p.Gly437Ala
NM_000545.6:c.1310G>C NP_000536.5:p.Gly437Ala
NM_001306179.1:c.1310G>C NP_001293108.1:p.Gly437Ala
XM_005253931.2:c.1310G>C XP_005253988.1:p.Gly437Ala
XM_024449168.1:c.1310G>C XP_024304936.1:p.Gly437Ala
NM_000545.8:c.1310G>C MANE Select NP_000536.6:p.Gly437Ala
NM_001306179.2:c.1310G>C NP_001293108.2:p.Gly437Ala