Canonical Allele Identifier: CA16606475

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 379138
• ClinVar RCV Id: RCV000425720
• dbSNP Id: rs1057520504
• gnomAD v4: 12-120994238-G-A
• COSMIC: COSM24929
• MyVariant Identifiers: chr12:g.121432041G>A (hg19) ; chr12:g.120994238G>A (hg38)
• ERepo: CA16606475/MONDO:0015967/017

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120994238G>A , CM000674.2:g.120994238G>A	GRCh38
NC_000012.11:g.121432041G>A , CM000674.1:g.121432041G>A	GRCh37
NC_000012.10:g.119916424G>A	NCBI36
NG_011731.2:g.20493G>A , LRG_522:g.20493G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.750+38G>A	ENSP00000453965.2:n.750+38G>A
ENST00000257555.11:c.788G>A MANE Select	ENSP00000257555.5:p.Arg263His
ENST00000257555.10:c.788G>A	ENSP00000257555.4:p.Arg263His
ENST00000400024.6:c.788G>A	ENSP00000476181.1:p.Arg263His
ENST00000402929.5:n.923G>A
ENST00000535955.5:n.43-3253G>A
ENST00000538626.2:n.191-3253G>A
ENST00000538646.5:c.601G>A	ENSP00000443964.1:p.Val201Met
ENST00000540108.1:c.*228G>A	ENSP00000445445.1:n.*228G>A
ENST00000541395.5:c.788G>A	ENSP00000443112.1:p.Arg263His
ENST00000541924.5:c.713+532G>A	ENSP00000440361.1:n.713+532G>A
ENST00000543427.5:c.633+612G>A	ENSP00000439721.2:n.633+612G>A
ENST00000544413.2:c.788G>A	ENSP00000438804.1:p.Arg263His
ENST00000544574.5:c.73-2379G>A	ENSP00000438565.1:n.73-2379G>A
ENST00000560968.5:c.893+38G>A
ENST00000615446.4:c.-257-2024G>A	ENSP00000483994.1:n.-257-2024G>A
ENST00000617366.4:c.586+659G>A	ENSP00000481967.1:n.586+659G>A
NM_000545.5:c.788G>A , LRG_522t1:c.788G>A	NP_000536.5:p.Arg263His
NM_000545.6:c.788G>A	NP_000536.5:p.Arg263His
NM_001306179.1:c.788G>A	NP_001293108.1:p.Arg263His
XM_005253931.2:c.788G>A	XP_005253988.1:p.Arg263His
XM_024449168.1:c.788G>A	XP_024304936.1:p.Arg263His
NM_000545.8:c.788G>A MANE Select	NP_000536.6:p.Arg263His
NM_001306179.2:c.788G>A	NP_001293108.2:p.Arg263His