Canonical Allele Identifier: CA482165126
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs1157238823
gnomAD v2: 12-121435311-C-A
gnomAD v4: 12-120997508-C-A
MyVariant Identifiers: chr12:g.121435311C>A (hg19) chr12:g.120997508C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997508C>A , CM000674.2:g.120997508C>A GRCh38
NC_000012.11:g.121435311C>A , CM000674.1:g.121435311C>A GRCh37
NC_000012.10:g.119919694C>A NCBI36
NG_011731.2:g.23763C>A , LRG_522:g.23763C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*91C>A ENSP00000453965.2:n.*91C>A
ENST00000257555.11:c.1344C>A MANE Select ENSP00000257555.5:p.Val448=
ENST00000257555.10:c.1344C>A ENSP00000257555.4:p.Val448=
ENST00000400024.6:c.1344C>A ENSP00000476181.1:p.Val448=
ENST00000402929.5:n.2210C>A
ENST00000535955.5:n.60C>A
ENST00000538626.2:n.208C>A
ENST00000538646.5:c.*320C>A ENSP00000443964.1:n.*320C>A
ENST00000540108.1:c.*784C>A ENSP00000445445.1:n.*784C>A
ENST00000541395.5:c.1344C>A ENSP00000443112.1:p.Val448=
ENST00000541924.5:c.*358C>A ENSP00000440361.1:n.*358C>A
ENST00000543255.1:n.388C>A
ENST00000543427.5:c.807C>A ENSP00000439721.2:p.Val269=
ENST00000544413.2:c.1344C>A ENSP00000438804.1:p.Val448=
ENST00000544574.5:c.*107C>A ENSP00000438565.1:n.*107C>A
ENST00000560968.5:c.1161C>A
ENST00000615446.4:c.132C>A ENSP00000483994.1:p.Val44=
ENST00000617366.4:c.587-126C>A ENSP00000481967.1:n.587-126C>A
NM_000545.5:c.1344C>A , LRG_522t1:c.1344C>A NP_000536.5:p.Val448=
NM_000545.6:c.1344C>A NP_000536.5:p.Val448=
NM_001306179.1:c.1344C>A NP_001293108.1:p.Val448=
XM_005253931.2:c.1344C>A XP_005253988.1:p.Val448=
XM_024449168.1:c.1344C>A XP_024304936.1:p.Val448=
NM_000545.8:c.1344C>A MANE Select NP_000536.6:p.Val448=
NM_001306179.2:c.1344C>A NP_001293108.2:p.Val448=
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