Canonical Allele Identifier: CA608060237

Gene: HNF1A

Linked Data

• dbSNP Id: rs748073658
• gnomAD v2: 12-121434022-A-G
• gnomAD v4: 12-120996219-A-G
• MyVariant Identifiers: chr12:g.121434022A>G (hg19) ; chr12:g.120996219A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996219A>G , CM000674.2:g.120996219A>G	GRCh38
NC_000012.11:g.121434022A>G , CM000674.1:g.121434022A>G	GRCh37
NC_000012.10:g.119918405A>G	NCBI36
NG_011731.2:g.22474A>G , LRG_522:g.22474A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.751-164A>G	ENSP00000453965.2:n.751-164A>G
ENST00000257555.11:c.956-43A>G MANE Select	ENSP00000257555.5:n.956-43A>G
ENST00000257555.10:c.956-43A>G	ENSP00000257555.4:n.956-43A>G
ENST00000400024.6:c.956-43A>G	ENSP00000476181.1:n.956-43A>G
ENST00000402929.5:n.1091-43A>G
ENST00000535955.5:n.43-1272A>G
ENST00000538626.2:n.191-1272A>G
ENST00000538646.5:c.769-43A>G	ENSP00000443964.1:n.769-43A>G
ENST00000540108.1:c.*396-43A>G	ENSP00000445445.1:n.*396-43A>G
ENST00000541395.5:c.956-43A>G	ENSP00000443112.1:n.956-43A>G
ENST00000541924.5:c.714-43A>G	ENSP00000440361.1:n.714-43A>G
ENST00000543427.5:c.634-385A>G	ENSP00000439721.2:n.634-385A>G
ENST00000544413.2:c.956-43A>G	ENSP00000438804.1:n.956-43A>G
ENST00000544574.5:c.73-398A>G	ENSP00000438565.1:n.73-398A>G
ENST00000560968.5:c.894-164A>G
ENST00000615446.4:c.-257-43A>G	ENSP00000483994.1:n.-257-43A>G
ENST00000617366.4:c.587-1415A>G	ENSP00000481967.1:n.587-1415A>G
NM_000545.5:c.956-43A>G , LRG_522t1:c.956-43A>G	NP_000536.5:n.956-43A>G
NM_000545.6:c.956-43A>G	NP_000536.5:n.956-43A>G
NM_001306179.1:c.956-43A>G	NP_001293108.1:n.956-43A>G
XM_005253931.2:c.956-43A>G	XP_005253988.1:n.956-43A>G
XM_024449168.1:c.956-43A>G	XP_024304936.1:n.956-43A>G
NM_000545.8:c.956-43A>G MANE Select	NP_000536.6:n.956-43A>G
NM_001306179.2:c.956-43A>G	NP_001293108.2:n.956-43A>G