Canonical Allele Identifier: CA2067688622
Gene: HNF1A HGNC NCBI
C12orf43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121001534T= , CM000674.2:g.121001534T= GRCh38
NC_000012.11:g.121439337T= , CM000674.1:g.121439337T= GRCh37
NC_000012.10:g.119923720T= NCBI36
NG_011731.2:g.27789T= , LRG_522:g.27789T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*985T= (HNF1A) ENSP00000453965.2:n.*985T=
ENST00000257555.11:c.*342T= (HNF1A) MANE Select ENSP00000257555.5:n.*342T=
ENST00000257555.10:c.*342T= (HNF1A) ENSP00000257555.4:n.*342T=
ENST00000288757.7:c.*2619A= (C12orf43) MANE Select ENSP00000288757.5:n.*2619A=
ENST00000540108.1:c.*1678T= (HNF1A) ENSP00000445445.1:n.*1678T=
ENST00000541395.5:c.*342T= (HNF1A) ENSP00000443112.1:n.*342T=
ENST00000543427.5:c.*342T= (HNF1A) ENSP00000439721.2:n.*342T=
ENST00000560968.5:c.2055T= (HNF1A)
ENST00000615446.4:c.*342T= (HNF1A) ENSP00000483994.1:n.*342T=
ENST00000617366.4:c.*647T= (HNF1A) ENSP00000481967.1:n.*647T=
NM_000545.5:c.*342T= , LRG_522t1:c.*342T= (HNF1A) NP_000536.5:n.*342T=
NM_000545.6:c.*342T= (HNF1A) NP_000536.5:n.*342T=
NM_001306179.1:c.*342T= (HNF1A) NP_001293108.1:n.*342T=
XM_005253931.2:c.*342T= (HNF1A) XP_005253988.1:n.*342T=
XM_024449168.1:c.*342T= (HNF1A) XP_024304936.1:n.*342T=
NM_000545.8:c.*342T= (HNF1A) MANE Select NP_000536.6:n.*342T=
NM_001286191.2:c.*2619A= (C12orf43) NP_001273120.1:n.*2619A=
NM_001286196.2:c.*2619A= (C12orf43) NP_001273125.1:n.*2619A=
NM_001306179.2:c.*342T= (HNF1A) NP_001293108.2:n.*342T=
NM_022895.3:c.*2619A= (C12orf43) MANE Select NP_075046.1:n.*2619A=