Canonical Allele Identifier: CA124487
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 14948
ClinVar RCV Id: RCV000016086 RCV000016087 RCV000016088 RCV000503110 RCV000763797 RCV000835061 RCV001810401 RCV002371772
dbSNP Id: rs137853247
ExAC: 12:121416663 G / A
gnomAD v2: 12-121416663-G-A
gnomAD v3: 12-120978860-G-A
gnomAD v4: 12-120978860-G-A
MyVariant Identifiers: chr12:g.121416663G>A (hg19) chr12:g.120978860G>A (hg38)
ERepo: CA124487/MONDO:0015967/017
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120978860G>A , CM000674.2:g.120978860G>A GRCh38
NC_000012.11:g.121416663G>A , CM000674.1:g.121416663G>A GRCh37
NC_000012.10:g.119901046G>A NCBI36
NG_011731.2:g.5115G>A , LRG_522:g.5115G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.92G>A ENSP00000453965.2:p.Gly31Asp
ENST00000257555.11:c.92G>A MANE Select ENSP00000257555.5:p.Gly31Asp
ENST00000257555.10:c.92G>A ENSP00000257555.4:p.Gly31Asp
ENST00000400024.6:c.92G>A ENSP00000476181.1:p.Gly31Asp
ENST00000402929.5:n.227G>A
ENST00000535955.5:n.42+168G>A
ENST00000538626.2:n.190+20G>A
ENST00000538646.5:c.92G>A ENSP00000443964.1:p.Gly31Asp
ENST00000540108.1:c.92G>A ENSP00000445445.1:p.Gly31Asp
ENST00000541395.5:c.92G>A ENSP00000443112.1:p.Gly31Asp
ENST00000541924.5:c.92G>A ENSP00000440361.1:p.Gly31Asp
ENST00000543427.5:c.92G>A ENSP00000439721.2:p.Gly31Asp
ENST00000544413.2:c.92G>A ENSP00000438804.1:p.Gly31Asp
ENST00000544574.5:c.72+20G>A ENSP00000438565.1:n.72+20G>A
ENST00000560968.5:c.235G>A
ENST00000615446.4:c.-258+149G>A ENSP00000483994.1:n.-258+149G>A
ENST00000617366.4:c.92G>A ENSP00000481967.1:p.Gly31Asp
NM_000545.5:c.92G>A , LRG_522t1:c.92G>A NP_000536.5:p.Gly31Asp
NM_000545.6:c.92G>A NP_000536.5:p.Gly31Asp
NM_001306179.1:c.92G>A NP_001293108.1:p.Gly31Asp
XM_005253931.2:c.92G>A XP_005253988.1:p.Gly31Asp
XM_024449168.1:c.92G>A XP_024304936.1:p.Gly31Asp
NM_000545.8:c.92G>A MANE Select NP_000536.6:p.Gly31Asp
NM_001306179.2:c.92G>A NP_001293108.2:p.Gly31Asp
Search 100 bp 5'
Search 100 bp 3'