Canonical Allele Identifier: CA684425020
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs1205289536
gnomAD v3: 12-120997718-A-G
gnomAD v4: 12-120997718-A-G
MyVariant Identifiers: chr12:g.121435521A>G (hg19) chr12:g.120997718A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997718A>G , CM000674.2:g.120997718A>G GRCh38
NC_000012.11:g.121435521A>G , CM000674.1:g.121435521A>G GRCh37
NC_000012.10:g.119919904A>G NCBI36
NG_011731.2:g.23973A>G , LRG_522:g.23973A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*248+53A>G ENSP00000453965.2:n.*248+53A>G
ENST00000257555.11:c.1501+53A>G MANE Select ENSP00000257555.5:n.1501+53A>G
ENST00000257555.10:c.1501+53A>G ENSP00000257555.4:n.1501+53A>G
ENST00000400024.6:c.1554A>G ENSP00000476181.1:p.Ser518=
ENST00000402929.5:n.2420A>G
ENST00000535955.5:n.270A>G
ENST00000538626.2:n.418A>G
ENST00000538646.5:c.*530A>G ENSP00000443964.1:n.*530A>G
ENST00000540108.1:c.*941+53A>G ENSP00000445445.1:n.*941+53A>G
ENST00000541395.5:c.1501+53A>G ENSP00000443112.1:n.1501+53A>G
ENST00000541924.5:c.*568A>G ENSP00000440361.1:n.*568A>G
ENST00000543255.1:n.598A>G
ENST00000543427.5:c.964+53A>G ENSP00000439721.2:n.964+53A>G
ENST00000544413.2:c.1501+53A>G ENSP00000438804.1:n.1501+53A>G
ENST00000544574.5:c.*317A>G ENSP00000438565.1:n.*317A>G
ENST00000560968.5:c.1318+53A>G
ENST00000615446.4:c.289+53A>G ENSP00000483994.1:n.289+53A>G
ENST00000617366.4:c.618+53A>G ENSP00000481967.1:n.618+53A>G
NM_000545.5:c.1501+53A>G , LRG_522t1:c.1501+53A>G NP_000536.5:n.1501+53A>G
NM_000545.6:c.1501+53A>G NP_000536.5:n.1501+53A>G
NM_001306179.1:c.1501+53A>G NP_001293108.1:n.1501+53A>G
XM_005253931.2:c.1501+53A>G XP_005253988.1:n.1501+53A>G
XM_024449168.1:c.1501+53A>G XP_024304936.1:n.1501+53A>G
NM_000545.8:c.1501+53A>G MANE Select NP_000536.6:n.1501+53A>G
NM_001306179.2:c.1501+53A>G NP_001293108.2:n.1501+53A>G
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