Canonical Allele Identifier: CA124463
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 14934
ClinVar RCV Id: RCV000016071 RCV003230366
dbSNP Id: rs137853240
gnomAD v2: 12-121432208-G-A
gnomAD v3: 12-120994405-G-A
gnomAD v4: 12-120994405-G-A
MyVariant Identifiers: chr12:g.121432208G>A (hg19) chr12:g.120994405G>A (hg38)
PubMed: PMID:10084598 PMID:10843190 PMID:11904371
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994405G>A , CM000674.2:g.120994405G>A GRCh38
NC_000012.11:g.121432208G>A , CM000674.1:g.121432208G>A GRCh37
NC_000012.10:g.119916591G>A NCBI36
NG_011731.2:g.20660G>A , LRG_522:g.20660G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+205G>A ENSP00000453965.2:n.750+205G>A
ENST00000257555.11:c.955G>A MANE Select ENSP00000257555.5:p.Gly319Ser
ENST00000257555.10:c.955G>A ENSP00000257555.4:p.Gly319Ser
ENST00000400024.6:c.955G>A ENSP00000476181.1:p.Gly319Ser
ENST00000402929.5:n.1090G>A
ENST00000535955.5:n.43-3086G>A
ENST00000538626.2:n.191-3086G>A
ENST00000538646.5:c.768G>A ENSP00000443964.1:p.Thr256=
ENST00000540108.1:c.*395G>A ENSP00000445445.1:n.*395G>A
ENST00000541395.5:c.955G>A ENSP00000443112.1:p.Gly319Ser
ENST00000541924.5:c.713+699G>A ENSP00000440361.1:n.713+699G>A
ENST00000543427.5:c.633+779G>A ENSP00000439721.2:n.633+779G>A
ENST00000544413.2:c.955G>A ENSP00000438804.1:p.Gly319Ser
ENST00000544574.5:c.73-2212G>A ENSP00000438565.1:n.73-2212G>A
ENST00000560968.5:c.893+205G>A
ENST00000615446.4:c.-257-1857G>A ENSP00000483994.1:n.-257-1857G>A
ENST00000617366.4:c.586+826G>A ENSP00000481967.1:n.586+826G>A
NM_000545.5:c.955G>A , LRG_522t1:c.955G>A NP_000536.5:p.Gly319Ser
NM_000545.6:c.955G>A NP_000536.5:p.Gly319Ser
NM_001306179.1:c.955G>A NP_001293108.1:p.Gly319Ser
XM_005253931.2:c.955G>A XP_005253988.1:p.Gly319Ser
XM_024449168.1:c.955G>A XP_024304936.1:p.Gly319Ser
NM_000545.8:c.955G>A MANE Select NP_000536.6:p.Gly319Ser
NM_001306179.2:c.955G>A NP_001293108.2:p.Gly319Ser
Search 100 bp 5'
Search 100 bp 3'