Canonical Allele Identifier: CA386973441
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 447484
ClinVar RCV Id: RCV000517281 RCV002250370
dbSNP Id: rs1168108747
gnomAD v2: 12-121437430-G-A
gnomAD v3: 12-120999627-G-A
gnomAD v4: 12-120999627-G-A
MyVariant Identifiers: chr12:g.121437430G>A (hg19) chr12:g.120999627G>A (hg38)
ERepo: CA386973441/MONDO:0015967/017
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120999627G>A , CM000674.2:g.120999627G>A GRCh38
NC_000012.11:g.121437430G>A , CM000674.1:g.121437430G>A GRCh37
NC_000012.10:g.119921813G>A NCBI36
NG_011731.2:g.25882G>A , LRG_522:g.25882G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*515G>A ENSP00000453965.2:n.*515G>A
ENST00000257555.11:c.1768G>A MANE Select ENSP00000257555.5:p.Val590Met
ENST00000257555.10:c.1768G>A ENSP00000257555.4:p.Val590Met
ENST00000540108.1:c.*1208G>A ENSP00000445445.1:n.*1208G>A
ENST00000541395.5:c.1861G>A ENSP00000443112.1:p.Val621Met
ENST00000543427.5:c.1231G>A ENSP00000439721.2:p.Val411Met
ENST00000544413.2:c.1789G>A ENSP00000438804.1:p.Val597Met
ENST00000560968.5:c.1585G>A
ENST00000615446.4:c.556G>A ENSP00000483994.1:p.Val186Met
ENST00000617366.4:c.*177G>A ENSP00000481967.1:n.*177G>A
NM_000545.5:c.1768G>A , LRG_522t1:c.1768G>A NP_000536.5:p.Val590Met
NM_000545.6:c.1768G>A NP_000536.5:p.Val590Met
NM_001306179.1:c.1789G>A NP_001293108.1:p.Val597Met
XM_005253931.2:c.1861G>A XP_005253988.1:p.Val621Met
XM_024449168.1:c.1861G>A XP_024304936.1:p.Val621Met
NM_000545.8:c.1768G>A MANE Select NP_000536.6:p.Val590Met
NM_001306179.2:c.1789G>A NP_001293108.2:p.Val597Met
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