Canonical Allele Identifier: CA386959454

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 447488
• ClinVar RCV Id: RCV001796089 ; RCV003482267
• dbSNP Id: rs753998395
• COSMIC: COSM1359408 ; COSM3398441
• MyVariant Identifiers: chr12:g.121426701G>T (hg19) ; chr12:g.120988898G>T (hg38)
• ERepo: CA386959454/MONDO:0015967/017

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120988898G>T , CM000674.2:g.120988898G>T	GRCh38
NC_000012.11:g.121426701G>T , CM000674.1:g.121426701G>T	GRCh37
NC_000012.10:g.119911084G>T	NCBI36
NG_011731.2:g.15153G>T , LRG_522:g.15153G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.392G>T	ENSP00000453965.2:p.Arg131Leu
ENST00000257555.11:c.392G>T MANE Select	ENSP00000257555.5:p.Arg131Leu
ENST00000257555.10:c.392G>T	ENSP00000257555.4:p.Arg131Leu
ENST00000400024.6:c.392G>T	ENSP00000476181.1:p.Arg131Leu
ENST00000402929.5:n.527G>T
ENST00000535955.5:n.43-8593G>T
ENST00000538626.2:n.191-8593G>T
ENST00000538646.5:c.392G>T	ENSP00000443964.1:p.Arg131Leu
ENST00000540108.1:c.327-4622G>T	ENSP00000445445.1:n.327-4622G>T
ENST00000541395.5:c.392G>T	ENSP00000443112.1:p.Arg131Leu
ENST00000541924.5:c.392G>T	ENSP00000440361.1:p.Arg131Leu
ENST00000543427.5:c.392G>T	ENSP00000439721.2:p.Arg131Leu
ENST00000544413.2:c.392G>T	ENSP00000438804.1:p.Arg131Leu
ENST00000544574.5:c.73-7719G>T	ENSP00000438565.1:n.73-7719G>T
ENST00000560968.5:c.535G>T
ENST00000615446.4:c.-257-7364G>T	ENSP00000483994.1:n.-257-7364G>T
ENST00000617366.4:c.392G>T	ENSP00000481967.1:p.Arg131Leu
NM_000545.5:c.392G>T , LRG_522t1:c.392G>T	NP_000536.5:p.Arg131Leu
NM_000545.6:c.392G>T	NP_000536.5:p.Arg131Leu
NM_001306179.1:c.392G>T	NP_001293108.1:p.Arg131Leu
XM_005253931.2:c.392G>T	XP_005253988.1:p.Arg131Leu
XM_024449168.1:c.392G>T	XP_024304936.1:p.Arg131Leu
NM_000545.8:c.392G>T MANE Select	NP_000536.6:p.Arg131Leu
NM_001306179.2:c.392G>T	NP_001293108.2:p.Arg131Leu