Canonical Allele Identifier: CA160007
Community Standard Title: NM_000545.8(HNF1A):c.1896A>G (p.Ter632=)
Gene: HNF1A HGNC NCBI
C12orf43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121001192A>G , CM000674.2:g.121001192A>G GRCh38
NC_000012.11:g.121438995A>G , CM000674.1:g.121438995A>G GRCh37
NC_000012.10:g.119923378A>G NCBI36
NG_011731.2:g.27447A>G , LRG_522:g.27447A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000545.8:c.1896A>G (HNF1A) MANE Select NP_000536.6:p.Ter632=
NM_022895.3:c.*2961T>C (C12orf43) MANE Select NP_075046.1:n.*2961T>C
ENST00000257555.11:c.1896A>G (HNF1A) MANE Select ENSP00000257555.5:p.Ter632=
ENST00000288757.7:c.*2961T>C (C12orf43) MANE Select ENSP00000288757.5:n.*2961T>C
NM_000545.5:c.1896A>G , LRG_522t1:c.1896A>G (HNF1A) NP_000536.5:p.Ter632=
NM_000545.6:c.1896A>G (HNF1A) NP_000536.5:p.Ter632=
NM_001286191.2:c.*2961T>C (C12orf43) NP_001273120.1:n.*2961T>C
NM_001286196.2:c.*2961T>C (C12orf43) NP_001273125.1:n.*2961T>C
NM_001306179.1:c.1917A>G (HNF1A) NP_001293108.1:p.Ter639=
NM_001306179.2:c.1917A>G (HNF1A) NP_001293108.2:p.Ter639=
ENST00000257555.10:c.1896A>G (HNF1A) ENSP00000257555.4:p.Ter632=
ENST00000540108.1:c.*1336A>G (HNF1A) ENSP00000445445.1:n.*1336A>G
ENST00000541395.5:c.1989A>G (HNF1A) ENSP00000443112.1:p.Ter663=
ENST00000543427.5:c.1359A>G (HNF1A) ENSP00000439721.2:p.Ter453=
ENST00000544413.2:c.1917A>G (HNF1A) ENSP00000438804.1:p.Ter639=
ENST00000560968.5:c.1713A>G (HNF1A)
ENST00000560968.6:c.*643A>G (HNF1A) ENSP00000453965.2:n.*643A>G
ENST00000615446.4:c.684A>G (HNF1A) ENSP00000483994.1:p.Ter228=
ENST00000617366.4:c.*305A>G (HNF1A) ENSP00000481967.1:n.*305A>G
XM_005253931.2:c.1989A>G (HNF1A) XP_005253988.1:p.Ter663=
XM_024449168.1:c.1989A>G (HNF1A) XP_024304936.1:p.Ter663=