Canonical Allele Identifier: CA2067690298
Gene: HNF1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120999166C>T , CM000674.2:g.120999166C>T GRCh38
NC_000012.11:g.121436969C>T , CM000674.1:g.121436969C>T GRCh37
NC_000012.10:g.119921352C>T NCBI36
NG_011731.2:g.25421C>T , LRG_522:g.25421C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*249-102C>T ENSP00000453965.2:n.*249-102C>T
ENST00000257555.11:c.1502-102C>T MANE Select ENSP00000257555.5:n.1502-102C>T
ENST00000257555.10:c.1502-102C>T ENSP00000257555.4:n.1502-102C>T
ENST00000540108.1:c.*942-102C>T ENSP00000445445.1:n.*942-102C>T
ENST00000541395.5:c.1502-102C>T ENSP00000443112.1:n.1502-102C>T
ENST00000543427.5:c.965-102C>T ENSP00000439721.2:n.965-102C>T
ENST00000544413.2:c.1502-102C>T ENSP00000438804.1:n.1502-102C>T
ENST00000560968.5:c.1319-102C>T
ENST00000615446.4:c.290-102C>T ENSP00000483994.1:n.290-102C>T
ENST00000617366.4:c.619-102C>T ENSP00000481967.1:n.619-102C>T
NM_000545.5:c.1502-102C>T , LRG_522t1:c.1502-102C>T NP_000536.5:n.1502-102C>T
NM_000545.6:c.1502-102C>T NP_000536.5:n.1502-102C>T
NM_001306179.1:c.1502-102C>T NP_001293108.1:n.1502-102C>T
XM_005253931.2:c.1502-102C>T XP_005253988.1:n.1502-102C>T
XM_024449168.1:c.1502-102C>T XP_024304936.1:n.1502-102C>T
NM_000545.8:c.1502-102C>T MANE Select NP_000536.6:n.1502-102C>T
NM_001306179.2:c.1502-102C>T NP_001293108.2:n.1502-102C>T
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