Canonical Allele Identifier: CA124478

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 14943
• ClinVar RCV Id: RCV002464066
• dbSNP Id: rs137853244
• gnomAD v4: 12-120988897-C-T
• COSMIC: COSM24907 ; COSM2175438
• MyVariant Identifiers: chr12:g.121426700C>T (hg19) ; chr12:g.120988897C>T (hg38)
• PubMed: PMID:9075818 ; PMID:9166684 ; PMID:12453976 ; PMID:12488961 ; PMID:12574234 ; PMID:15928245 ; PMID:17989309 ; PMID:21224407
• ERepo: CA124478/MONDO:0015967/017

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120988897C>T , CM000674.2:g.120988897C>T	GRCh38
NC_000012.11:g.121426700C>T , CM000674.1:g.121426700C>T	GRCh37
NC_000012.10:g.119911083C>T	NCBI36
NG_011731.2:g.15152C>T , LRG_522:g.15152C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.391C>T	ENSP00000453965.2:p.Arg131Trp
ENST00000257555.11:c.391C>T MANE Select	ENSP00000257555.5:p.Arg131Trp
ENST00000257555.10:c.391C>T	ENSP00000257555.4:p.Arg131Trp
ENST00000400024.6:c.391C>T	ENSP00000476181.1:p.Arg131Trp
ENST00000402929.5:n.526C>T
ENST00000535955.5:n.43-8594C>T
ENST00000538626.2:n.191-8594C>T
ENST00000538646.5:c.391C>T	ENSP00000443964.1:p.Arg131Trp
ENST00000540108.1:c.327-4623C>T	ENSP00000445445.1:n.327-4623C>T
ENST00000541395.5:c.391C>T	ENSP00000443112.1:p.Arg131Trp
ENST00000541924.5:c.391C>T	ENSP00000440361.1:p.Arg131Trp
ENST00000543427.5:c.391C>T	ENSP00000439721.2:p.Arg131Trp
ENST00000544413.2:c.391C>T	ENSP00000438804.1:p.Arg131Trp
ENST00000544574.5:c.73-7720C>T	ENSP00000438565.1:n.73-7720C>T
ENST00000560968.5:c.534C>T
ENST00000615446.4:c.-257-7365C>T	ENSP00000483994.1:n.-257-7365C>T
ENST00000617366.4:c.391C>T	ENSP00000481967.1:p.Arg131Trp
NM_000545.5:c.391C>T , LRG_522t1:c.391C>T	NP_000536.5:p.Arg131Trp
NM_000545.6:c.391C>T	NP_000536.5:p.Arg131Trp
NM_001306179.1:c.391C>T	NP_001293108.1:p.Arg131Trp
XM_005253931.2:c.391C>T	XP_005253988.1:p.Arg131Trp
XM_024449168.1:c.391C>T	XP_024304936.1:p.Arg131Trp
NM_000545.8:c.391C>T MANE Select	NP_000536.6:p.Arg131Trp
NM_001306179.2:c.391C>T	NP_001293108.2:p.Arg131Trp