Canonical Allele Identifier: CA386970425
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 747559
ClinVar RCV Id: RCV000924279
dbSNP Id: rs2464195
MyVariant Identifiers: chr12:g.121435475G>C (hg19) chr12:g.120997672G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997672G>C , CM000674.2:g.120997672G>C GRCh38
NC_000012.11:g.121435475G>C , CM000674.1:g.121435475G>C GRCh37
NC_000012.10:g.119919858G>C NCBI36
NG_011731.2:g.23927G>C , LRG_522:g.23927G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*248+7G>C ENSP00000453965.2:n.*248+7G>C
ENST00000257555.11:c.1501+7G>C MANE Select ENSP00000257555.5:n.1501+7G>C
ENST00000257555.10:c.1501+7G>C ENSP00000257555.4:n.1501+7G>C
ENST00000400024.6:c.1508G>C ENSP00000476181.1:p.Arg503Pro
ENST00000402929.5:n.2374G>C
ENST00000535955.5:n.224G>C
ENST00000538626.2:n.372G>C
ENST00000538646.5:c.*484G>C ENSP00000443964.1:n.*484G>C
ENST00000540108.1:c.*941+7G>C ENSP00000445445.1:n.*941+7G>C
ENST00000541395.5:c.1501+7G>C ENSP00000443112.1:n.1501+7G>C
ENST00000541924.5:c.*522G>C ENSP00000440361.1:n.*522G>C
ENST00000543255.1:n.552G>C
ENST00000543427.5:c.964+7G>C ENSP00000439721.2:n.964+7G>C
ENST00000544413.2:c.1501+7G>C ENSP00000438804.1:n.1501+7G>C
ENST00000544574.5:c.*271G>C ENSP00000438565.1:n.*271G>C
ENST00000560968.5:c.1318+7G>C
ENST00000615446.4:c.289+7G>C ENSP00000483994.1:n.289+7G>C
ENST00000617366.4:c.618+7G>C ENSP00000481967.1:n.618+7G>C
NM_000545.5:c.1501+7G>C , LRG_522t1:c.1501+7G>C NP_000536.5:n.1501+7G>C
NM_000545.6:c.1501+7G>C NP_000536.5:n.1501+7G>C
NM_001306179.1:c.1501+7G>C NP_001293108.1:n.1501+7G>C
XM_005253931.2:c.1501+7G>C XP_005253988.1:n.1501+7G>C
XM_024449168.1:c.1501+7G>C XP_024304936.1:n.1501+7G>C
NM_000545.8:c.1501+7G>C MANE Select NP_000536.6:n.1501+7G>C
NM_001306179.2:c.1501+7G>C NP_001293108.2:n.1501+7G>C
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