Canonical Allele Identifier: CA386955008
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 447486
ClinVar RCV Id: RCV000518275 RCV002222037 RCV002329216
dbSNP Id: rs1555210478
MyVariant Identifiers: chr12:g.121416899T>G (hg19) chr12:g.120979096T>G (hg38)
ERepo: CA386955008/MONDO:0015967/017
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120979096T>G , CM000674.2:g.120979096T>G GRCh38
NC_000012.11:g.121416899T>G , CM000674.1:g.121416899T>G GRCh37
NC_000012.10:g.119901282T>G NCBI36
NG_011731.2:g.5351T>G , LRG_522:g.5351T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000560968.6:c.326+2T>G ENSP00000453965.2:n.326+2T>G
ENST00000257555.11:c.326+2T>G MANE Select ENSP00000257555.5:n.326+2T>G
ENST00000257555.10:c.326+2T>G ENSP00000257555.4:n.326+2T>G
ENST00000400024.6:c.326+2T>G ENSP00000476181.1:n.326+2T>G
ENST00000402929.5:n.461+2T>G
ENST00000535955.5:n.42+404T>G
ENST00000538626.2:n.190+256T>G
ENST00000538646.5:c.326+2T>G ENSP00000443964.1:n.326+2T>G
ENST00000540108.1:c.326+2T>G ENSP00000445445.1:n.326+2T>G
ENST00000541395.5:c.326+2T>G ENSP00000443112.1:n.326+2T>G
ENST00000541924.5:c.326+2T>G ENSP00000440361.1:n.326+2T>G
ENST00000543427.5:c.326+2T>G ENSP00000439721.2:n.326+2T>G
ENST00000544413.2:c.326+2T>G ENSP00000438804.1:n.326+2T>G
ENST00000544574.5:c.72+256T>G ENSP00000438565.1:n.72+256T>G
ENST00000560968.5:c.469+2T>G
ENST00000615446.4:c.-258+385T>G ENSP00000483994.1:n.-258+385T>G
ENST00000617366.4:c.326+2T>G ENSP00000481967.1:n.326+2T>G
NM_000545.5:c.326+2T>G , LRG_522t1:c.326+2T>G NP_000536.5:n.326+2T>G
NM_000545.6:c.326+2T>G NP_000536.5:n.326+2T>G
NM_001306179.1:c.326+2T>G NP_001293108.1:n.326+2T>G
XM_005253931.2:c.326+2T>G XP_005253988.1:n.326+2T>G
XM_024449168.1:c.326+2T>G XP_024304936.1:n.326+2T>G
NM_000545.8:c.326+2T>G MANE Select NP_000536.6:n.326+2T>G
NM_001306179.2:c.326+2T>G NP_001293108.2:n.326+2T>G
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