Canonical Allele Identifier: CA482431103
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135841666
MyVariant Identifiers: chr12:g.121432042T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994239T>A , CM000674.2:g.120994239T>A GRCh38
NC_000012.11:g.121432042T>A , CM000674.1:g.121432042T>A GRCh37
NC_000012.10:g.119916425T>A NCBI36
NG_011731.2:g.20494T>A , LRG_522:g.20494T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+39T>A ENSP00000453965.2:n.750+39T>A
ENST00000257555.11:c.789T>A MANE Select ENSP00000257555.5:p.Arg263=
ENST00000257555.10:c.789T>A ENSP00000257555.4:p.Arg263=
ENST00000400024.6:c.789T>A ENSP00000476181.1:p.Arg263=
ENST00000402929.5:n.924T>A
ENST00000535955.5:n.43-3252T>A
ENST00000538626.2:n.191-3252T>A
ENST00000538646.5:c.602T>A ENSP00000443964.1:p.Val201Glu
ENST00000540108.1:c.*229T>A ENSP00000445445.1:n.*229T>A
ENST00000541395.5:c.789T>A ENSP00000443112.1:p.Arg263=
ENST00000541924.5:c.713+533T>A ENSP00000440361.1:n.713+533T>A
ENST00000543427.5:c.633+613T>A ENSP00000439721.2:n.633+613T>A
ENST00000544413.2:c.789T>A ENSP00000438804.1:p.Arg263=
ENST00000544574.5:c.73-2378T>A ENSP00000438565.1:n.73-2378T>A
ENST00000560968.5:c.893+39T>A
ENST00000615446.4:c.-257-2023T>A ENSP00000483994.1:n.-257-2023T>A
ENST00000617366.4:c.586+660T>A ENSP00000481967.1:n.586+660T>A
NM_000545.5:c.789T>A , LRG_522t1:c.789T>A NP_000536.5:p.Arg263=
NM_000545.6:c.789T>A NP_000536.5:p.Arg263=
NM_001306179.1:c.789T>A NP_001293108.1:p.Arg263=
XM_005253931.2:c.789T>A XP_005253988.1:p.Arg263=
XM_024449168.1:c.789T>A XP_024304936.1:p.Arg263=
NM_000545.8:c.789T>A MANE Select NP_000536.6:p.Arg263=
NM_001306179.2:c.789T>A NP_001293108.2:p.Arg263=