Canonical Allele Identifier: CA386970374
Gene: HNF1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997652G>T , CM000674.2:g.120997652G>T GRCh38
NC_000012.11:g.121435455G>T , CM000674.1:g.121435455G>T GRCh37
NC_000012.10:g.119919838G>T NCBI36
NG_011731.2:g.23907G>T , LRG_522:g.23907G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*235G>T ENSP00000453965.2:n.*235G>T
ENST00000257555.11:c.1488G>T MANE Select ENSP00000257555.5:p.Leu496=
ENST00000257555.10:c.1488G>T ENSP00000257555.4:p.Leu496=
ENST00000400024.6:c.1488G>T ENSP00000476181.1:p.Leu496=
ENST00000402929.5:n.2354G>T
ENST00000535955.5:n.204G>T
ENST00000538626.2:n.352G>T
ENST00000538646.5:c.*464G>T ENSP00000443964.1:n.*464G>T
ENST00000540108.1:c.*928G>T ENSP00000445445.1:n.*928G>T
ENST00000541395.5:c.1488G>T ENSP00000443112.1:p.Leu496=
ENST00000541924.5:c.*502G>T ENSP00000440361.1:n.*502G>T
ENST00000543255.1:n.532G>T
ENST00000543427.5:c.951G>T ENSP00000439721.2:p.Leu317=
ENST00000544413.2:c.1488G>T ENSP00000438804.1:p.Leu496=
ENST00000544574.5:c.*251G>T ENSP00000438565.1:n.*251G>T
ENST00000560968.5:c.1305G>T
ENST00000615446.4:c.276G>T ENSP00000483994.1:p.Leu92=
ENST00000617366.4:c.605G>T ENSP00000481967.1:p.Cys202Phe
NM_000545.5:c.1488G>T , LRG_522t1:c.1488G>T NP_000536.5:p.Leu496=
NM_000545.6:c.1488G>T NP_000536.5:p.Leu496=
NM_001306179.1:c.1488G>T NP_001293108.1:p.Leu496=
XM_005253931.2:c.1488G>T XP_005253988.1:p.Leu496=
XM_024449168.1:c.1488G>T XP_024304936.1:p.Leu496=
NM_000545.8:c.1488G>T MANE Select NP_000536.6:p.Leu496=
NM_001306179.2:c.1488G>T NP_001293108.2:p.Leu496=