Canonical Allele Identifier: CA482430733
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135842773
gnomAD v4: 12-120994401-C-A
MyVariant Identifiers: chr12:g.121432204C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994401C>A , CM000674.2:g.120994401C>A GRCh38
NC_000012.11:g.121432204C>A , CM000674.1:g.121432204C>A GRCh37
NC_000012.10:g.119916587C>A NCBI36
NG_011731.2:g.20656C>A , LRG_522:g.20656C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+201C>A ENSP00000453965.2:n.750+201C>A
ENST00000257555.11:c.951C>A MANE Select ENSP00000257555.5:p.Val317=
ENST00000257555.10:c.951C>A ENSP00000257555.4:p.Val317=
ENST00000400024.6:c.951C>A ENSP00000476181.1:p.Val317=
ENST00000402929.5:n.1086C>A
ENST00000535955.5:n.43-3090C>A
ENST00000538626.2:n.191-3090C>A
ENST00000538646.5:c.764C>A ENSP00000443964.1:p.Ser255Tyr
ENST00000540108.1:c.*391C>A ENSP00000445445.1:n.*391C>A
ENST00000541395.5:c.951C>A ENSP00000443112.1:p.Val317=
ENST00000541924.5:c.713+695C>A ENSP00000440361.1:n.713+695C>A
ENST00000543427.5:c.633+775C>A ENSP00000439721.2:n.633+775C>A
ENST00000544413.2:c.951C>A ENSP00000438804.1:p.Val317=
ENST00000544574.5:c.73-2216C>A ENSP00000438565.1:n.73-2216C>A
ENST00000560968.5:c.893+201C>A
ENST00000615446.4:c.-257-1861C>A ENSP00000483994.1:n.-257-1861C>A
ENST00000617366.4:c.586+822C>A ENSP00000481967.1:n.586+822C>A
NM_000545.5:c.951C>A , LRG_522t1:c.951C>A NP_000536.5:p.Val317=
NM_000545.6:c.951C>A NP_000536.5:p.Val317=
NM_001306179.1:c.951C>A NP_001293108.1:p.Val317=
XM_005253931.2:c.951C>A XP_005253988.1:p.Val317=
XM_024449168.1:c.951C>A XP_024304936.1:p.Val317=
NM_000545.8:c.951C>A MANE Select NP_000536.6:p.Val317=
NM_001306179.2:c.951C>A NP_001293108.2:p.Val317=
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