Canonical Allele Identifier: CA214258
Gene: HNF1A HGNC NCBI
ClinGen Evidence Repository:
Classification Uncertain Significance
Condition monogenic diabetes
VCEP Monogenic Diabetes VCEP
MyVariant.info:
GRCh38 chr12:g.120996698T>C
GRCh37 chr12:g.121434501T>C
Revel Score:
ENST00000257555 (MANE Select) 0.604
ENST00000535125 0.604
ENST00000544680 0.604
ENST00000537424 0.604
ENST00000543027 0.604
ENST00000543427 0.604
ENST00000545458 0.604
ENST00000541395 0.604
ENST00000340577 0.604
ENST00000344370 0.604
ENST00000544413 0.604
gnomAD v2:
12:121434501 T / C
gnomAD v4:
chr12-120996698-T-C
Joint Max Group AF 0.00000359 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar Allele:
45458
ClinVar RCV:
RCV000030477
RCV001810404
ClinVar Variation:
36797
dbSNP:
193922577
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120996698T>C , CM000674.2:g.120996698T>C GRCh38
NC_000012.11:g.121434501T>C , CM000674.1:g.121434501T>C GRCh37
NC_000012.10:g.119918884T>C NCBI36
NG_011731.2:g.22953T>C , LRG_522:g.22953T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*12T>C ENSP00000453965.2:n.*12T>C
ENST00000257555.11:c.1265T>C MANE Select ENSP00000257555.5:p.Leu422Pro
ENST00000257555.10:c.1265T>C ENSP00000257555.4:p.Leu422Pro
ENST00000400024.6:c.1265T>C ENSP00000476181.1:p.Leu422Pro
ENST00000402929.5:n.1400T>C
ENST00000535955.5:n.43-793T>C
ENST00000538626.2:n.191-793T>C
ENST00000538646.5:c.*241T>C ENSP00000443964.1:n.*241T>C
ENST00000540108.1:c.*705T>C ENSP00000445445.1:n.*705T>C
ENST00000541395.5:c.1265T>C ENSP00000443112.1:p.Leu422Pro
ENST00000541924.5:c.*279T>C ENSP00000440361.1:n.*279T>C
ENST00000543255.1:n.309T>C
ENST00000543427.5:c.728T>C ENSP00000439721.2:p.Leu243Pro
ENST00000544413.2:c.1265T>C ENSP00000438804.1:p.Leu422Pro
ENST00000544574.5:c.*28T>C ENSP00000438565.1:n.*28T>C
ENST00000560968.5:c.1082T>C
ENST00000615446.4:c.53T>C ENSP00000483994.1:p.Leu18Pro
ENST00000617366.4:c.587-936T>C ENSP00000481967.1:n.587-936T>C
NM_000545.5:c.1265T>C , LRG_522t1:c.1265T>C NP_000536.5:p.Leu422Pro
NM_000545.6:c.1265T>C NP_000536.5:p.Leu422Pro
NM_001306179.1:c.1265T>C NP_001293108.1:p.Leu422Pro
XM_005253931.2:c.1265T>C XP_005253988.1:p.Leu422Pro
XM_024449168.1:c.1265T>C XP_024304936.1:p.Leu422Pro
NM_000545.8:c.1265T>C MANE Select NP_000536.6:p.Leu422Pro
NM_001306179.2:c.1265T>C NP_001293108.2:p.Leu422Pro
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