Canonical Allele Identifier: CA386952577
Gene: HNF1A HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition monogenic diabetes
VCEP Monogenic Diabetes VCEP
MyVariant.info:
GRCh38 chr12:g.120978826G>A
GRCh37 chr12:g.121416629G>A
Revel Score:
ENST00000257555 (MANE Select) 0.956
ENST00000535125 0.956
ENST00000543536 0.956
ENST00000544680 0.956
ENST00000537424 0.956
ENST00000543027 0.956
ENST00000545458 0.956
ENST00000541395 0.956
ENST00000340577 0.956
ENST00000344370 0.956
ENST00000544413 0.956
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120978826G>A , CM000674.2:g.120978826G>A GRCh38
NC_000012.11:g.121416629G>A , CM000674.1:g.121416629G>A GRCh37
NC_000012.10:g.119901012G>A NCBI36
NG_011731.2:g.5081G>A , LRG_522:g.5081G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.58G>A ENSP00000453965.2:p.Gly20Arg
ENST00000257555.11:c.58G>A MANE Select ENSP00000257555.5:p.Gly20Arg
ENST00000257555.10:c.58G>A ENSP00000257555.4:p.Gly20Arg
ENST00000400024.6:c.58G>A ENSP00000476181.1:p.Gly20Arg
ENST00000402929.5:n.193G>A
ENST00000535955.5:n.42+134G>A
ENST00000538626.2:n.176G>A
ENST00000538646.5:c.58G>A ENSP00000443964.1:p.Gly20Arg
ENST00000540108.1:c.58G>A ENSP00000445445.1:p.Gly20Arg
ENST00000541395.5:c.58G>A ENSP00000443112.1:p.Gly20Arg
ENST00000541924.5:c.58G>A ENSP00000440361.1:p.Gly20Arg
ENST00000543427.5:c.58G>A ENSP00000439721.2:p.Gly20Arg
ENST00000544413.2:c.58G>A ENSP00000438804.1:p.Gly20Arg
ENST00000544574.5:c.58G>A ENSP00000438565.1:p.Gly20Arg
ENST00000560968.5:c.201G>A
ENST00000615446.4:c.-258+115G>A ENSP00000483994.1:n.-258+115G>A
ENST00000617366.4:c.58G>A ENSP00000481967.1:p.Gly20Arg
NM_000545.5:c.58G>A , LRG_522t1:c.58G>A NP_000536.5:p.Gly20Arg
NM_000545.6:c.58G>A NP_000536.5:p.Gly20Arg
NM_001306179.1:c.58G>A NP_001293108.1:p.Gly20Arg
XM_005253931.2:c.58G>A XP_005253988.1:p.Gly20Arg
XM_024449168.1:c.58G>A XP_024304936.1:p.Gly20Arg
NM_000545.8:c.58G>A MANE Select NP_000536.6:p.Gly20Arg
NM_001306179.2:c.58G>A NP_001293108.2:p.Gly20Arg
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