Canonical Allele Identifier: CA482431118
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135841871
MyVariant Identifiers: chr12:g.121432066G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994263G>C , CM000674.2:g.120994263G>C GRCh38
NC_000012.11:g.121432066G>C , CM000674.1:g.121432066G>C GRCh37
NC_000012.10:g.119916449G>C NCBI36
NG_011731.2:g.20518G>C , LRG_522:g.20518G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+63G>C ENSP00000453965.2:n.750+63G>C
ENST00000257555.11:c.813G>C MANE Select ENSP00000257555.5:p.Arg271=
ENST00000257555.10:c.813G>C ENSP00000257555.4:p.Arg271=
ENST00000400024.6:c.813G>C ENSP00000476181.1:p.Arg271=
ENST00000402929.5:n.948G>C
ENST00000535955.5:n.43-3228G>C
ENST00000538626.2:n.191-3228G>C
ENST00000538646.5:c.626G>C ENSP00000443964.1:p.Gly209Ala
ENST00000540108.1:c.*253G>C ENSP00000445445.1:n.*253G>C
ENST00000541395.5:c.813G>C ENSP00000443112.1:p.Arg271=
ENST00000541924.5:c.713+557G>C ENSP00000440361.1:n.713+557G>C
ENST00000543427.5:c.633+637G>C ENSP00000439721.2:n.633+637G>C
ENST00000544413.2:c.813G>C ENSP00000438804.1:p.Arg271=
ENST00000544574.5:c.73-2354G>C ENSP00000438565.1:n.73-2354G>C
ENST00000560968.5:c.893+63G>C
ENST00000615446.4:c.-257-1999G>C ENSP00000483994.1:n.-257-1999G>C
ENST00000617366.4:c.586+684G>C ENSP00000481967.1:n.586+684G>C
NM_000545.5:c.813G>C , LRG_522t1:c.813G>C NP_000536.5:p.Arg271=
NM_000545.6:c.813G>C NP_000536.5:p.Arg271=
NM_001306179.1:c.813G>C NP_001293108.1:p.Arg271=
XM_005253931.2:c.813G>C XP_005253988.1:p.Arg271=
XM_024449168.1:c.813G>C XP_024304936.1:p.Arg271=
NM_000545.8:c.813G>C MANE Select NP_000536.6:p.Arg271=
NM_001306179.2:c.813G>C NP_001293108.2:p.Arg271=