Canonical Allele Identifier: CA386964742
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2691840
ClinVar RCV Id: RCV003494037
gnomAD v4: 12-120993639-C-T
MyVariant Identifiers: chr12:g.121431442C>T (hg19) chr12:g.120993639C>T (hg38)
ERepo: CA386964742/MONDO:0015967/017
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993639C>T , CM000674.2:g.120993639C>T GRCh38
NC_000012.11:g.121431442C>T , CM000674.1:g.121431442C>T GRCh37
NC_000012.10:g.119915825C>T NCBI36
NG_011731.2:g.19894C>T , LRG_522:g.19894C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.646C>T ENSP00000453965.2:p.Gln216Ter
ENST00000257555.11:c.646C>T MANE Select ENSP00000257555.5:p.Gln216Ter
ENST00000257555.10:c.646C>T ENSP00000257555.4:p.Gln216Ter
ENST00000400024.6:c.646C>T ENSP00000476181.1:p.Gln216Ter
ENST00000402929.5:n.781C>T
ENST00000535955.5:n.43-3852C>T
ENST00000538626.2:n.191-3852C>T
ENST00000538646.5:c.527-525C>T ENSP00000443964.1:n.527-525C>T
ENST00000540108.1:c.*86C>T ENSP00000445445.1:n.*86C>T
ENST00000541395.5:c.646C>T ENSP00000443112.1:p.Gln216Ter
ENST00000541924.5:c.646C>T ENSP00000440361.1:p.Gln216Ter
ENST00000543427.5:c.633+13C>T ENSP00000439721.2:n.633+13C>T
ENST00000544413.2:c.646C>T ENSP00000438804.1:p.Gln216Ter
ENST00000544574.5:c.73-2978C>T ENSP00000438565.1:n.73-2978C>T
ENST00000560968.5:c.789C>T
ENST00000615446.4:c.-257-2623C>T ENSP00000483994.1:n.-257-2623C>T
ENST00000617366.4:c.586+60C>T ENSP00000481967.1:n.586+60C>T
NM_000545.5:c.646C>T , LRG_522t1:c.646C>T NP_000536.5:p.Gln216Ter
NM_000545.6:c.646C>T NP_000536.5:p.Gln216Ter
NM_001306179.1:c.646C>T NP_001293108.1:p.Gln216Ter
XM_005253931.2:c.646C>T XP_005253988.1:p.Gln216Ter
XM_024449168.1:c.646C>T XP_024304936.1:p.Gln216Ter
NM_000545.8:c.646C>T MANE Select NP_000536.6:p.Gln216Ter
NM_001306179.2:c.646C>T NP_001293108.2:p.Gln216Ter
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