Canonical Allele Identifier: CA6832048

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 728301
• ClinVar RCV Id: RCV002319600
• dbSNP Id: rs765827203
• ExAC: 12:121435431 C / G
• gnomAD v2: 12-121435431-C-G
• gnomAD v3: 12-120997628-C-G
• gnomAD v4: 12-120997628-C-G
• MyVariant Identifiers: chr12:g.121435431C>G (hg19) ; chr12:g.120997628C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997628C>G , CM000674.2:g.120997628C>G	GRCh38
NC_000012.11:g.121435431C>G , CM000674.1:g.121435431C>G	GRCh37
NC_000012.10:g.119919814C>G	NCBI36
NG_011731.2:g.23883C>G , LRG_522:g.23883C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.*211C>G	ENSP00000453965.2:n.*211C>G
ENST00000257555.11:c.1464C>G MANE Select	ENSP00000257555.5:p.Pro488=
ENST00000257555.10:c.1464C>G	ENSP00000257555.4:p.Pro488=
ENST00000400024.6:c.1464C>G	ENSP00000476181.1:p.Pro488=
ENST00000402929.5:n.2330C>G
ENST00000535955.5:n.180C>G
ENST00000538626.2:n.328C>G
ENST00000538646.5:c.*440C>G	ENSP00000443964.1:n.*440C>G
ENST00000540108.1:c.*904C>G	ENSP00000445445.1:n.*904C>G
ENST00000541395.5:c.1464C>G	ENSP00000443112.1:p.Pro488=
ENST00000541924.5:c.*478C>G	ENSP00000440361.1:n.*478C>G
ENST00000543255.1:n.508C>G
ENST00000543427.5:c.927C>G	ENSP00000439721.2:p.Pro309=
ENST00000544413.2:c.1464C>G	ENSP00000438804.1:p.Pro488=
ENST00000544574.5:c.*227C>G	ENSP00000438565.1:n.*227C>G
ENST00000560968.5:c.1281C>G
ENST00000615446.4:c.252C>G	ENSP00000483994.1:p.Pro84=
ENST00000617366.4:c.587-6C>G	ENSP00000481967.1:n.587-6C>G
NM_000545.5:c.1464C>G , LRG_522t1:c.1464C>G	NP_000536.5:p.Pro488=
NM_000545.6:c.1464C>G	NP_000536.5:p.Pro488=
NM_001306179.1:c.1464C>G	NP_001293108.1:p.Pro488=
XM_005253931.2:c.1464C>G	XP_005253988.1:p.Pro488=
XM_024449168.1:c.1464C>G	XP_024304936.1:p.Pro488=
NM_000545.8:c.1464C>G MANE Select	NP_000536.6:p.Pro488=
NM_001306179.2:c.1464C>G	NP_001293108.2:p.Pro488=