Canonical Allele Identifier: CA386970585
Gene: HNF1A HGNC NCBI

Linked Data

gnomAD v4: 12-120997746-C-T
MyVariant Identifiers: chr12:g.121435549C>T (hg19) chr12:g.120997746C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997746C>T , CM000674.2:g.120997746C>T GRCh38
NC_000012.11:g.121435549C>T , CM000674.1:g.121435549C>T GRCh37
NC_000012.10:g.119919932C>T NCBI36
NG_011731.2:g.24001C>T , LRG_522:g.24001C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*248+81C>T ENSP00000453965.2:n.*248+81C>T
ENST00000257555.11:c.1501+81C>T MANE Select ENSP00000257555.5:n.1501+81C>T
ENST00000257555.10:c.1501+81C>T ENSP00000257555.4:n.1501+81C>T
ENST00000400024.6:c.1582C>T ENSP00000476181.1:p.Gln528Ter
ENST00000402929.5:n.2448C>T
ENST00000535955.5:n.298C>T
ENST00000538626.2:n.446C>T
ENST00000538646.5:c.*558C>T ENSP00000443964.1:n.*558C>T
ENST00000540108.1:c.*941+81C>T ENSP00000445445.1:n.*941+81C>T
ENST00000541395.5:c.1501+81C>T ENSP00000443112.1:n.1501+81C>T
ENST00000541924.5:c.*596C>T ENSP00000440361.1:n.*596C>T
ENST00000543255.1:n.626C>T
ENST00000543427.5:c.964+81C>T ENSP00000439721.2:n.964+81C>T
ENST00000544413.2:c.1501+81C>T ENSP00000438804.1:n.1501+81C>T
ENST00000544574.5:c.*345C>T ENSP00000438565.1:n.*345C>T
ENST00000560968.5:c.1318+81C>T
ENST00000615446.4:c.289+81C>T ENSP00000483994.1:n.289+81C>T
ENST00000617366.4:c.618+81C>T ENSP00000481967.1:n.618+81C>T
NM_000545.5:c.1501+81C>T , LRG_522t1:c.1501+81C>T NP_000536.5:n.1501+81C>T
NM_000545.6:c.1501+81C>T NP_000536.5:n.1501+81C>T
NM_001306179.1:c.1501+81C>T NP_001293108.1:n.1501+81C>T
XM_005253931.2:c.1501+81C>T XP_005253988.1:n.1501+81C>T
XM_024449168.1:c.1501+81C>T XP_024304936.1:n.1501+81C>T
NM_000545.8:c.1501+81C>T MANE Select NP_000536.6:n.1501+81C>T
NM_001306179.2:c.1501+81C>T NP_001293108.2:n.1501+81C>T
Search 100 bp 5'
Search 100 bp 3'