Canonical Allele Identifier: CA244535239
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs1048657826
gnomAD v3: 12-120997780-G-C
gnomAD v4: 12-120997780-G-C
MyVariant Identifiers: chr12:g.121435583G>C (hg19) chr12:g.120997780G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997780G>C , CM000674.2:g.120997780G>C GRCh38
NC_000012.11:g.121435583G>C , CM000674.1:g.121435583G>C GRCh37
NC_000012.10:g.119919966G>C NCBI36
NG_011731.2:g.24035G>C , LRG_522:g.24035G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*248+115G>C ENSP00000453965.2:n.*248+115G>C
ENST00000257555.11:c.1501+115G>C MANE Select ENSP00000257555.5:n.1501+115G>C
ENST00000257555.10:c.1501+115G>C ENSP00000257555.4:n.1501+115G>C
ENST00000400024.6:c.1616G>C ENSP00000476181.1:p.Ser539Thr
ENST00000402929.5:n.2482G>C
ENST00000535955.5:n.332G>C
ENST00000538626.2:n.480G>C
ENST00000538646.5:c.*592G>C ENSP00000443964.1:n.*592G>C
ENST00000540108.1:c.*941+115G>C ENSP00000445445.1:n.*941+115G>C
ENST00000541395.5:c.1501+115G>C ENSP00000443112.1:n.1501+115G>C
ENST00000541924.5:c.*630G>C ENSP00000440361.1:n.*630G>C
ENST00000543255.1:n.660G>C
ENST00000543427.5:c.964+115G>C ENSP00000439721.2:n.964+115G>C
ENST00000544413.2:c.1501+115G>C ENSP00000438804.1:n.1501+115G>C
ENST00000544574.5:c.*379G>C ENSP00000438565.1:n.*379G>C
ENST00000560968.5:c.1318+115G>C
ENST00000615446.4:c.289+115G>C ENSP00000483994.1:n.289+115G>C
ENST00000617366.4:c.618+115G>C ENSP00000481967.1:n.618+115G>C
NM_000545.5:c.1501+115G>C , LRG_522t1:c.1501+115G>C NP_000536.5:n.1501+115G>C
NM_000545.6:c.1501+115G>C NP_000536.5:n.1501+115G>C
NM_001306179.1:c.1501+115G>C NP_001293108.1:n.1501+115G>C
XM_005253931.2:c.1501+115G>C XP_005253988.1:n.1501+115G>C
XM_024449168.1:c.1501+115G>C XP_024304936.1:n.1501+115G>C
NM_000545.8:c.1501+115G>C MANE Select NP_000536.6:n.1501+115G>C
NM_001306179.2:c.1501+115G>C NP_001293108.2:n.1501+115G>C
Search 100 bp 5'
Search 100 bp 3'