Canonical Allele Identifier: CA386970289
Gene: HNF1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121435421C>T (hg19) chr12:g.120997618C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997618C>T , CM000674.2:g.120997618C>T GRCh38
NC_000012.11:g.121435421C>T , CM000674.1:g.121435421C>T GRCh37
NC_000012.10:g.119919804C>T NCBI36
NG_011731.2:g.23873C>T , LRG_522:g.23873C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*201C>T ENSP00000453965.2:n.*201C>T
ENST00000257555.11:c.1454C>T MANE Select ENSP00000257555.5:p.Thr485Ile
ENST00000257555.10:c.1454C>T ENSP00000257555.4:p.Thr485Ile
ENST00000400024.6:c.1454C>T ENSP00000476181.1:p.Thr485Ile
ENST00000402929.5:n.2320C>T
ENST00000535955.5:n.170C>T
ENST00000538626.2:n.318C>T
ENST00000538646.5:c.*430C>T ENSP00000443964.1:n.*430C>T
ENST00000540108.1:c.*894C>T ENSP00000445445.1:n.*894C>T
ENST00000541395.5:c.1454C>T ENSP00000443112.1:p.Thr485Ile
ENST00000541924.5:c.*468C>T ENSP00000440361.1:n.*468C>T
ENST00000543255.1:n.498C>T
ENST00000543427.5:c.917C>T ENSP00000439721.2:p.Thr306Ile
ENST00000544413.2:c.1454C>T ENSP00000438804.1:p.Thr485Ile
ENST00000544574.5:c.*217C>T ENSP00000438565.1:n.*217C>T
ENST00000560968.5:c.1271C>T
ENST00000615446.4:c.242C>T ENSP00000483994.1:p.Thr81Ile
ENST00000617366.4:c.587-16C>T ENSP00000481967.1:n.587-16C>T
NM_000545.5:c.1454C>T , LRG_522t1:c.1454C>T NP_000536.5:p.Thr485Ile
NM_000545.6:c.1454C>T NP_000536.5:p.Thr485Ile
NM_001306179.1:c.1454C>T NP_001293108.1:p.Thr485Ile
XM_005253931.2:c.1454C>T XP_005253988.1:p.Thr485Ile
XM_024449168.1:c.1454C>T XP_024304936.1:p.Thr485Ile
NM_000545.8:c.1454C>T MANE Select NP_000536.6:p.Thr485Ile
NM_001306179.2:c.1454C>T NP_001293108.2:p.Thr485Ile
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