Canonical Allele Identifier: CA386970321

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 1700666
• ClinVar RCV Id: RCV002285544
• dbSNP Id: rs775893674
• gnomAD v4: 12-120997633-T-G
• MyVariant Identifiers: chr12:g.121435436T>G (hg19) ; chr12:g.120997633T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997633T>G , CM000674.2:g.120997633T>G	GRCh38
NC_000012.11:g.121435436T>G , CM000674.1:g.121435436T>G	GRCh37
NC_000012.10:g.119919819T>G	NCBI36
NG_011731.2:g.23888T>G , LRG_522:g.23888T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.*216T>G	ENSP00000453965.2:n.*216T>G
ENST00000257555.11:c.1469T>G MANE Select	ENSP00000257555.5:p.Met490Arg
ENST00000257555.10:c.1469T>G	ENSP00000257555.4:p.Met490Arg
ENST00000400024.6:c.1469T>G	ENSP00000476181.1:p.Met490Arg
ENST00000402929.5:n.2335T>G
ENST00000535955.5:n.185T>G
ENST00000538626.2:n.333T>G
ENST00000538646.5:c.*445T>G	ENSP00000443964.1:n.*445T>G
ENST00000540108.1:c.*909T>G	ENSP00000445445.1:n.*909T>G
ENST00000541395.5:c.1469T>G	ENSP00000443112.1:p.Met490Arg
ENST00000541924.5:c.*483T>G	ENSP00000440361.1:n.*483T>G
ENST00000543255.1:n.513T>G
ENST00000543427.5:c.932T>G	ENSP00000439721.2:p.Met311Arg
ENST00000544413.2:c.1469T>G	ENSP00000438804.1:p.Met490Arg
ENST00000544574.5:c.*232T>G	ENSP00000438565.1:n.*232T>G
ENST00000560968.5:c.1286T>G
ENST00000615446.4:c.257T>G	ENSP00000483994.1:p.Met86Arg
ENST00000617366.4:c.587-1T>G	ENSP00000481967.1:n.587-1T>G
NM_000545.5:c.1469T>G , LRG_522t1:c.1469T>G	NP_000536.5:p.Met490Arg
NM_000545.6:c.1469T>G	NP_000536.5:p.Met490Arg
NM_001306179.1:c.1469T>G	NP_001293108.1:p.Met490Arg
XM_005253931.2:c.1469T>G	XP_005253988.1:p.Met490Arg
XM_024449168.1:c.1469T>G	XP_024304936.1:p.Met490Arg
NM_000545.8:c.1469T>G MANE Select	NP_000536.6:p.Met490Arg
NM_001306179.2:c.1469T>G	NP_001293108.2:p.Met490Arg