Canonical Allele Identifier: CA2621393484

Gene: HNF1A C12orf43

Linked Data

• gnomAD v4: 12-121001646-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121001646G>C , CM000674.2:g.121001646G>C	GRCh38
NC_000012.11:g.121439449G>C , CM000674.1:g.121439449G>C	GRCh37
NC_000012.10:g.119923832G>C	NCBI36
NG_011731.2:g.27901G>C , LRG_522:g.27901G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.*1097G>C (HNF1A)	ENSP00000453965.2:n.*1097G>C
ENST00000257555.11:c.*454G>C (HNF1A) MANE Select	ENSP00000257555.5:n.*454G>C
ENST00000257555.10:c.*454G>C (HNF1A)	ENSP00000257555.4:n.*454G>C
ENST00000288757.7:c.*2507C>G (C12orf43) MANE Select	ENSP00000288757.5:n.*2507C>G
ENST00000540108.1:c.*1790G>C (HNF1A)	ENSP00000445445.1:n.*1790G>C
ENST00000541395.5:c.*454G>C (HNF1A)	ENSP00000443112.1:n.*454G>C
ENST00000543427.5:c.*454G>C (HNF1A)	ENSP00000439721.2:n.*454G>C
ENST00000560968.5:c.2167G>C (HNF1A)
ENST00000615446.4:c.*454G>C (HNF1A)	ENSP00000483994.1:n.*454G>C
ENST00000617366.4:c.*759G>C (HNF1A)	ENSP00000481967.1:n.*759G>C
NM_000545.5:c.*454G>C , LRG_522t1:c.*454G>C (HNF1A)	NP_000536.5:n.*454G>C
NM_000545.6:c.*454G>C (HNF1A)	NP_000536.5:n.*454G>C
NM_001306179.1:c.*454G>C (HNF1A)	NP_001293108.1:n.*454G>C
XM_005253931.2:c.*454G>C (HNF1A)	XP_005253988.1:n.*454G>C
XM_024449168.1:c.*454G>C (HNF1A)	XP_024304936.1:n.*454G>C
NM_000545.8:c.*454G>C (HNF1A) MANE Select	NP_000536.6:n.*454G>C
NM_001286191.2:c.*2507C>G (C12orf43)	NP_001273120.1:n.*2507C>G
NM_001286196.2:c.*2507C>G (C12orf43)	NP_001273125.1:n.*2507C>G
NM_001306179.2:c.*454G>C (HNF1A)	NP_001293108.2:n.*454G>C
NM_022895.3:c.*2507C>G (C12orf43) MANE Select	NP_075046.1:n.*2507C>G