Canonical Allele Identifier: CA124457
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 14930
ClinVar RCV Id: RCV002464065
dbSNP Id: rs137853237
COSMIC: COSM1605658 COSM3703898
MyVariant Identifiers: chr12:g.121426674A>G (hg19) chr12:g.120988871A>G (hg38)
PubMed: PMID:9097962
ERepo: CA124457/MONDO:0015967/017
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120988871A>G , CM000674.2:g.120988871A>G GRCh38
NC_000012.11:g.121426674A>G , CM000674.1:g.121426674A>G GRCh37
NC_000012.10:g.119911057A>G NCBI36
NG_011731.2:g.15126A>G , LRG_522:g.15126A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000560968.6:c.365A>G ENSP00000453965.2:p.Tyr122Cys
ENST00000257555.11:c.365A>G MANE Select ENSP00000257555.5:p.Tyr122Cys
ENST00000257555.10:c.365A>G ENSP00000257555.4:p.Tyr122Cys
ENST00000400024.6:c.365A>G ENSP00000476181.1:p.Tyr122Cys
ENST00000402929.5:n.500A>G
ENST00000535955.5:n.43-8620A>G
ENST00000538626.2:n.191-8620A>G
ENST00000538646.5:c.365A>G ENSP00000443964.1:p.Tyr122Cys
ENST00000540108.1:c.327-4649A>G ENSP00000445445.1:n.327-4649A>G
ENST00000541395.5:c.365A>G ENSP00000443112.1:p.Tyr122Cys
ENST00000541924.5:c.365A>G ENSP00000440361.1:p.Tyr122Cys
ENST00000543427.5:c.365A>G ENSP00000439721.2:p.Tyr122Cys
ENST00000544413.2:c.365A>G ENSP00000438804.1:p.Tyr122Cys
ENST00000544574.5:c.73-7746A>G ENSP00000438565.1:n.73-7746A>G
ENST00000560968.5:c.508A>G
ENST00000615446.4:c.-257-7391A>G ENSP00000483994.1:n.-257-7391A>G
ENST00000617366.4:c.365A>G ENSP00000481967.1:p.Tyr122Cys
NM_000545.5:c.365A>G , LRG_522t1:c.365A>G NP_000536.5:p.Tyr122Cys
NM_000545.6:c.365A>G NP_000536.5:p.Tyr122Cys
NM_001306179.1:c.365A>G NP_001293108.1:p.Tyr122Cys
XM_005253931.2:c.365A>G XP_005253988.1:p.Tyr122Cys
XM_024449168.1:c.365A>G XP_024304936.1:p.Tyr122Cys
NM_000545.8:c.365A>G MANE Select NP_000536.6:p.Tyr122Cys
NM_001306179.2:c.365A>G NP_001293108.2:p.Tyr122Cys
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