Canonical Allele Identifier: CA386970351
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135848141
gnomAD v4: 12-120997644-G-A
MyVariant Identifiers: chr12:g.121435447G>A (hg19) chr12:g.120997644G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997644G>A , CM000674.2:g.120997644G>A GRCh38
NC_000012.11:g.121435447G>A , CM000674.1:g.121435447G>A GRCh37
NC_000012.10:g.119919830G>A NCBI36
NG_011731.2:g.23899G>A , LRG_522:g.23899G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*227G>A ENSP00000453965.2:n.*227G>A
ENST00000257555.11:c.1480G>A MANE Select ENSP00000257555.5:p.Ala494Thr
ENST00000257555.10:c.1480G>A ENSP00000257555.4:p.Ala494Thr
ENST00000400024.6:c.1480G>A ENSP00000476181.1:p.Ala494Thr
ENST00000402929.5:n.2346G>A
ENST00000535955.5:n.196G>A
ENST00000538626.2:n.344G>A
ENST00000538646.5:c.*456G>A ENSP00000443964.1:n.*456G>A
ENST00000540108.1:c.*920G>A ENSP00000445445.1:n.*920G>A
ENST00000541395.5:c.1480G>A ENSP00000443112.1:p.Ala494Thr
ENST00000541924.5:c.*494G>A ENSP00000440361.1:n.*494G>A
ENST00000543255.1:n.524G>A
ENST00000543427.5:c.943G>A ENSP00000439721.2:p.Ala315Thr
ENST00000544413.2:c.1480G>A ENSP00000438804.1:p.Ala494Thr
ENST00000544574.5:c.*243G>A ENSP00000438565.1:n.*243G>A
ENST00000560968.5:c.1297G>A
ENST00000615446.4:c.268G>A ENSP00000483994.1:p.Ala90Thr
ENST00000617366.4:c.597G>A ENSP00000481967.1:p.Trp199Ter
NM_000545.5:c.1480G>A , LRG_522t1:c.1480G>A NP_000536.5:p.Ala494Thr
NM_000545.6:c.1480G>A NP_000536.5:p.Ala494Thr
NM_001306179.1:c.1480G>A NP_001293108.1:p.Ala494Thr
XM_005253931.2:c.1480G>A XP_005253988.1:p.Ala494Thr
XM_024449168.1:c.1480G>A XP_024304936.1:p.Ala494Thr
NM_000545.8:c.1480G>A MANE Select NP_000536.6:p.Ala494Thr
NM_001306179.2:c.1480G>A NP_001293108.2:p.Ala494Thr
Search 100 bp 5'
Search 100 bp 3'