Canonical Allele Identifier: CA386958889
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 972751
ClinVar RCV Id: RCV001248888 RCV002327605
dbSNP Id: rs1876667856
gnomAD v4: 12-120988849-G-T
MyVariant Identifiers: chr12:g.121426652G>T (hg19) chr12:g.120988849G>T (hg38)
ERepo: CA386958889/MONDO:0015967/017
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120988849G>T , CM000674.2:g.120988849G>T GRCh38
NC_000012.11:g.121426652G>T , CM000674.1:g.121426652G>T GRCh37
NC_000012.10:g.119911035G>T NCBI36
NG_011731.2:g.15104G>T , LRG_522:g.15104G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.343G>T ENSP00000453965.2:p.Val115Leu
ENST00000257555.11:c.343G>T MANE Select ENSP00000257555.5:p.Val115Leu
ENST00000257555.10:c.343G>T ENSP00000257555.4:p.Val115Leu
ENST00000400024.6:c.343G>T ENSP00000476181.1:p.Val115Leu
ENST00000402929.5:n.478G>T
ENST00000535955.5:n.43-8642G>T
ENST00000538626.2:n.191-8642G>T
ENST00000538646.5:c.343G>T ENSP00000443964.1:p.Val115Leu
ENST00000540108.1:c.327-4671G>T ENSP00000445445.1:n.327-4671G>T
ENST00000541395.5:c.343G>T ENSP00000443112.1:p.Val115Leu
ENST00000541924.5:c.343G>T ENSP00000440361.1:p.Val115Leu
ENST00000543427.5:c.343G>T ENSP00000439721.2:p.Val115Leu
ENST00000544413.2:c.343G>T ENSP00000438804.1:p.Val115Leu
ENST00000544574.5:c.73-7768G>T ENSP00000438565.1:n.73-7768G>T
ENST00000560968.5:c.486G>T
ENST00000615446.4:c.-257-7413G>T ENSP00000483994.1:n.-257-7413G>T
ENST00000617366.4:c.343G>T ENSP00000481967.1:p.Val115Leu
NM_000545.5:c.343G>T , LRG_522t1:c.343G>T NP_000536.5:p.Val115Leu
NM_000545.6:c.343G>T NP_000536.5:p.Val115Leu
NM_001306179.1:c.343G>T NP_001293108.1:p.Val115Leu
XM_005253931.2:c.343G>T XP_005253988.1:p.Val115Leu
XM_024449168.1:c.343G>T XP_024304936.1:p.Val115Leu
NM_000545.8:c.343G>T MANE Select NP_000536.6:p.Val115Leu
NM_001306179.2:c.343G>T NP_001293108.2:p.Val115Leu
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