Canonical Allele Identifier: CA386970386
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135848209
MyVariant Identifiers: chr12:g.121435459A>G (hg19) chr12:g.120997656A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997656A>G , CM000674.2:g.120997656A>G GRCh38
NC_000012.11:g.121435459A>G , CM000674.1:g.121435459A>G GRCh37
NC_000012.10:g.119919842A>G NCBI36
NG_011731.2:g.23911A>G , LRG_522:g.23911A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*239A>G ENSP00000453965.2:n.*239A>G
ENST00000257555.11:c.1492A>G MANE Select ENSP00000257555.5:p.Ser498Gly
ENST00000257555.10:c.1492A>G ENSP00000257555.4:p.Ser498Gly
ENST00000400024.6:c.1492A>G ENSP00000476181.1:p.Ser498Gly
ENST00000402929.5:n.2358A>G
ENST00000535955.5:n.208A>G
ENST00000538626.2:n.356A>G
ENST00000538646.5:c.*468A>G ENSP00000443964.1:n.*468A>G
ENST00000540108.1:c.*932A>G ENSP00000445445.1:n.*932A>G
ENST00000541395.5:c.1492A>G ENSP00000443112.1:p.Ser498Gly
ENST00000541924.5:c.*506A>G ENSP00000440361.1:n.*506A>G
ENST00000543255.1:n.536A>G
ENST00000543427.5:c.955A>G ENSP00000439721.2:p.Ser319Gly
ENST00000544413.2:c.1492A>G ENSP00000438804.1:p.Ser498Gly
ENST00000544574.5:c.*255A>G ENSP00000438565.1:n.*255A>G
ENST00000560968.5:c.1309A>G
ENST00000615446.4:c.280A>G ENSP00000483994.1:p.Ser94Gly
ENST00000617366.4:c.609A>G ENSP00000481967.1:p.Arg203=
NM_000545.5:c.1492A>G , LRG_522t1:c.1492A>G NP_000536.5:p.Ser498Gly
NM_000545.6:c.1492A>G NP_000536.5:p.Ser498Gly
NM_001306179.1:c.1492A>G NP_001293108.1:p.Ser498Gly
XM_005253931.2:c.1492A>G XP_005253988.1:p.Ser498Gly
XM_024449168.1:c.1492A>G XP_024304936.1:p.Ser498Gly
NM_000545.8:c.1492A>G MANE Select NP_000536.6:p.Ser498Gly
NM_001306179.2:c.1492A>G NP_001293108.2:p.Ser498Gly
Search 100 bp 5'
Search 100 bp 3'