Canonical Allele Identifier: CA482164107
Gene: HNF1A HGNC NCBI

Linked Data

gnomAD v4: 12-120993633-C-T
MyVariant Identifiers: chr12:g.121431436C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993633C>T , CM000674.2:g.120993633C>T GRCh38
NC_000012.11:g.121431436C>T , CM000674.1:g.121431436C>T GRCh37
NC_000012.10:g.119915819C>T NCBI36
NG_011731.2:g.19888C>T , LRG_522:g.19888C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.640C>T ENSP00000453965.2:p.Leu214=
ENST00000257555.11:c.640C>T MANE Select ENSP00000257555.5:p.Leu214=
ENST00000257555.10:c.640C>T ENSP00000257555.4:p.Leu214=
ENST00000400024.6:c.640C>T ENSP00000476181.1:p.Leu214=
ENST00000402929.5:n.775C>T
ENST00000535955.5:n.43-3858C>T
ENST00000538626.2:n.191-3858C>T
ENST00000538646.5:c.527-531C>T ENSP00000443964.1:n.527-531C>T
ENST00000540108.1:c.*80C>T ENSP00000445445.1:n.*80C>T
ENST00000541395.5:c.640C>T ENSP00000443112.1:p.Leu214=
ENST00000541924.5:c.640C>T ENSP00000440361.1:p.Leu214=
ENST00000543427.5:c.633+7C>T ENSP00000439721.2:n.633+7C>T
ENST00000544413.2:c.640C>T ENSP00000438804.1:p.Leu214=
ENST00000544574.5:c.73-2984C>T ENSP00000438565.1:n.73-2984C>T
ENST00000560968.5:c.783C>T
ENST00000615446.4:c.-257-2629C>T ENSP00000483994.1:n.-257-2629C>T
ENST00000617366.4:c.586+54C>T ENSP00000481967.1:n.586+54C>T
NM_000545.5:c.640C>T , LRG_522t1:c.640C>T NP_000536.5:p.Leu214=
NM_000545.6:c.640C>T NP_000536.5:p.Leu214=
NM_001306179.1:c.640C>T NP_001293108.1:p.Leu214=
XM_005253931.2:c.640C>T XP_005253988.1:p.Leu214=
XM_024449168.1:c.640C>T XP_024304936.1:p.Leu214=
NM_000545.8:c.640C>T MANE Select NP_000536.6:p.Leu214=
NM_001306179.2:c.640C>T NP_001293108.2:p.Leu214=
Search 100 bp 5'
Search 100 bp 3'