Canonical Allele Identifier: CA6832189
Gene: HNF1A HGNC NCBI
C12orf43 HGNC NCBI
gnomAD v2:
12:121438844 T / C
gnomAD v3:
12:121001041 T / C
gnomAD v4:
chr12-121001041-T-C
Joint Max Group AF 0.534763 (MID)
Genomes Max Group AF 0.49743367 (SAS)
Exomes Max Group AF 0.53379748 (MID)
ClinVar RCV:
RCV000832816
ClinVar Variation:
673537
dbSNP:
735396
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121001041T>C , CM000674.2:g.121001041T>C GRCh38
NC_000012.11:g.121438844T>C , CM000674.1:g.121438844T>C GRCh37
NC_000012.10:g.119923227T>C NCBI36
NG_011731.2:g.27296T>C , LRG_522:g.27296T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*516-24T>C (HNF1A) ENSP00000453965.2:n.*516-24T>C
ENST00000257555.11:c.1769-24T>C (HNF1A) MANE Select ENSP00000257555.5:n.1769-24T>C
ENST00000257555.10:c.1769-24T>C (HNF1A) ENSP00000257555.4:n.1769-24T>C
ENST00000288757.7:c.*3112A>G (C12orf43) MANE Select ENSP00000288757.5:n.*3112A>G
ENST00000540108.1:c.*1209-24T>C (HNF1A) ENSP00000445445.1:n.*1209-24T>C
ENST00000541395.5:c.1862-24T>C (HNF1A) ENSP00000443112.1:n.1862-24T>C
ENST00000543427.5:c.1232-24T>C (HNF1A) ENSP00000439721.2:n.1232-24T>C
ENST00000544413.2:c.1790-24T>C (HNF1A) ENSP00000438804.1:n.1790-24T>C
ENST00000560968.5:c.1586-24T>C (HNF1A)
ENST00000615446.4:c.557-24T>C (HNF1A) ENSP00000483994.1:n.557-24T>C
ENST00000617366.4:c.*178-24T>C (HNF1A) ENSP00000481967.1:n.*178-24T>C
NM_000545.5:c.1769-24T>C , LRG_522t1:c.1769-24T>C (HNF1A) NP_000536.5:n.1769-24T>C
NM_000545.6:c.1769-24T>C (HNF1A) NP_000536.5:n.1769-24T>C
NM_001306179.1:c.1790-24T>C (HNF1A) NP_001293108.1:n.1790-24T>C
XM_005253931.2:c.1862-24T>C (HNF1A) XP_005253988.1:n.1862-24T>C
XM_024449168.1:c.1862-24T>C (HNF1A) XP_024304936.1:n.1862-24T>C
NM_000545.8:c.1769-24T>C (HNF1A) MANE Select NP_000536.6:n.1769-24T>C
NM_001286191.2:c.*3112A>G (C12orf43) NP_001273120.1:n.*3112A>G
NM_001286196.2:c.*3112A>G (C12orf43) NP_001273125.1:n.*3112A>G
NM_001306179.2:c.1790-24T>C (HNF1A) NP_001293108.2:n.1790-24T>C
NM_022895.3:c.*3112A>G (C12orf43) MANE Select NP_075046.1:n.*3112A>G
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