Canonical Allele Identifier: CA214288
Community Standard Title: NM_000545.8(HNF1A):c.1745A>G (p.His582Arg)
Gene: HNF1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120999604A>G , CM000674.2:g.120999604A>G GRCh38
NC_000012.11:g.121437407A>G , CM000674.1:g.121437407A>G GRCh37
NC_000012.10:g.119921790A>G NCBI36
NG_011731.2:g.25859A>G , LRG_522:g.25859A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000545.8:c.1745A>G MANE Select NP_000536.6:p.His582Arg
ENST00000257555.11:c.1745A>G MANE Select ENSP00000257555.5:p.His582Arg
NM_000545.5:c.1745A>G , LRG_522t1:c.1745A>G NP_000536.5:p.His582Arg
NM_000545.6:c.1745A>G NP_000536.5:p.His582Arg
NM_001306179.1:c.1766A>G NP_001293108.1:p.His589Arg
NM_001306179.2:c.1766A>G NP_001293108.2:p.His589Arg
ENST00000257555.10:c.1745A>G ENSP00000257555.4:p.His582Arg
ENST00000540108.1:c.*1185A>G ENSP00000445445.1:n.*1185A>G
ENST00000541395.5:c.1838A>G ENSP00000443112.1:p.His613Arg
ENST00000543427.5:c.1208A>G ENSP00000439721.2:p.His403Arg
ENST00000544413.2:c.1766A>G ENSP00000438804.1:p.His589Arg
ENST00000560968.5:c.1562A>G
ENST00000560968.6:c.*492A>G ENSP00000453965.2:n.*492A>G
ENST00000615446.4:c.533A>G ENSP00000483994.1:p.His178Arg
ENST00000617366.4:c.*154A>G ENSP00000481967.1:n.*154A>G
XM_005253931.2:c.1838A>G XP_005253988.1:p.His613Arg
XM_024449168.1:c.1838A>G XP_024304936.1:p.His613Arg
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