Canonical Allele Identifier: CA386964924
Gene: HNF1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121431462G>T (hg19) chr12:g.120993659G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993659G>T , CM000674.2:g.120993659G>T GRCh38
NC_000012.11:g.121431462G>T , CM000674.1:g.121431462G>T GRCh37
NC_000012.10:g.119915845G>T NCBI36
NG_011731.2:g.19914G>T , LRG_522:g.19914G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.666G>T ENSP00000453965.2:p.Lys222Asn
ENST00000257555.11:c.666G>T MANE Select ENSP00000257555.5:p.Lys222Asn
ENST00000257555.10:c.666G>T ENSP00000257555.4:p.Lys222Asn
ENST00000400024.6:c.666G>T ENSP00000476181.1:p.Lys222Asn
ENST00000402929.5:n.801G>T
ENST00000535955.5:n.43-3832G>T
ENST00000538626.2:n.191-3832G>T
ENST00000538646.5:c.527-505G>T ENSP00000443964.1:n.527-505G>T
ENST00000540108.1:c.*106G>T ENSP00000445445.1:n.*106G>T
ENST00000541395.5:c.666G>T ENSP00000443112.1:p.Lys222Asn
ENST00000541924.5:c.666G>T ENSP00000440361.1:p.Lys222Asn
ENST00000543427.5:c.633+33G>T ENSP00000439721.2:n.633+33G>T
ENST00000544413.2:c.666G>T ENSP00000438804.1:p.Lys222Asn
ENST00000544574.5:c.73-2958G>T ENSP00000438565.1:n.73-2958G>T
ENST00000560968.5:c.809G>T
ENST00000615446.4:c.-257-2603G>T ENSP00000483994.1:n.-257-2603G>T
ENST00000617366.4:c.586+80G>T ENSP00000481967.1:n.586+80G>T
NM_000545.5:c.666G>T , LRG_522t1:c.666G>T NP_000536.5:p.Lys222Asn
NM_000545.6:c.666G>T NP_000536.5:p.Lys222Asn
NM_001306179.1:c.666G>T NP_001293108.1:p.Lys222Asn
XM_005253931.2:c.666G>T XP_005253988.1:p.Lys222Asn
XM_024449168.1:c.666G>T XP_024304936.1:p.Lys222Asn
NM_000545.8:c.666G>T MANE Select NP_000536.6:p.Lys222Asn
NM_001306179.2:c.666G>T NP_001293108.2:p.Lys222Asn
Search 100 bp 5'
Search 100 bp 3'