Canonical Allele Identifier: CA386940977
Gene: HNF1A HGNC NCBI
C12orf43 HGNC NCBI

Linked Data

ClinVar Variation Id: 1315998
ClinVar RCV Id: RCV001757445 RCV002274204 RCV002285494
dbSNP Id: rs2135854451
gnomAD v4: 12-121001077-G-T
COSMIC: COSM3703902
MyVariant Identifiers: chr12:g.121438880G>T (hg19) chr12:g.121001077G>T (hg38)
ERepo: CA386940977/MONDO:0015967/017
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121001077G>T , CM000674.2:g.121001077G>T GRCh38
NC_000012.11:g.121438880G>T , CM000674.1:g.121438880G>T GRCh37
NC_000012.10:g.119923263G>T NCBI36
NG_011731.2:g.27332G>T , LRG_522:g.27332G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*528G>T (HNF1A) ENSP00000453965.2:n.*528G>T
ENST00000257555.11:c.1781G>T (HNF1A) MANE Select ENSP00000257555.5:p.Ser594Ile
ENST00000257555.10:c.1781G>T (HNF1A) ENSP00000257555.4:p.Ser594Ile
ENST00000288757.7:c.*3076C>A (C12orf43) MANE Select ENSP00000288757.5:n.*3076C>A
ENST00000540108.1:c.*1221G>T (HNF1A) ENSP00000445445.1:n.*1221G>T
ENST00000541395.5:c.1874G>T (HNF1A) ENSP00000443112.1:p.Ser625Ile
ENST00000543427.5:c.1244G>T (HNF1A) ENSP00000439721.2:p.Ser415Ile
ENST00000544413.2:c.1802G>T (HNF1A) ENSP00000438804.1:p.Ser601Ile
ENST00000560968.5:c.1598G>T (HNF1A)
ENST00000615446.4:c.569G>T (HNF1A) ENSP00000483994.1:p.Ser190Ile
ENST00000617366.4:c.*190G>T (HNF1A) ENSP00000481967.1:n.*190G>T
NM_000545.5:c.1781G>T , LRG_522t1:c.1781G>T (HNF1A) NP_000536.5:p.Ser594Ile
NM_000545.6:c.1781G>T (HNF1A) NP_000536.5:p.Ser594Ile
NM_001306179.1:c.1802G>T (HNF1A) NP_001293108.1:p.Ser601Ile
XM_005253931.2:c.1874G>T (HNF1A) XP_005253988.1:p.Ser625Ile
XM_024449168.1:c.1874G>T (HNF1A) XP_024304936.1:p.Ser625Ile
NM_000545.8:c.1781G>T (HNF1A) MANE Select NP_000536.6:p.Ser594Ile
NM_001286191.2:c.*3076C>A (C12orf43) NP_001273120.1:n.*3076C>A
NM_001286196.2:c.*3076C>A (C12orf43) NP_001273125.1:n.*3076C>A
NM_001306179.2:c.1802G>T (HNF1A) NP_001293108.2:p.Ser601Ile
NM_022895.3:c.*3076C>A (C12orf43) MANE Select NP_075046.1:n.*3076C>A
Search 100 bp 5'
Search 100 bp 3'